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<meta name="ncbi_db" content="books" /><meta name="ncbi_pdid" content="book-part" /><meta name="ncbi_acc" content="NBK7047" /><meta name="ncbi_domain" content="gene" /><meta name="ncbi_report" content="record" /><meta name="ncbi_type" content="fulltext" /><meta name="ncbi_objectid" content="" /><meta name="ncbi_pcid" content="/NBK7047/" /><meta name="ncbi_pagename" content="Diamond-Blackfan Anemia - GeneReviews® - NCBI Bookshelf" /><meta name="ncbi_bookparttype" content="chapter" /><meta name="ncbi_app" content="bookshelf" />
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Diamond-Blackfan Anemia" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2023/03/23" /><meta name="citation_author" content="Colin Sieff" /><meta name="citation_pmid" content="20301769" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK7047/" /><meta name="citation_keywords" content="Erythroid transcription factor" /><meta name="citation_keywords" content="Large ribosomal subunit protein eL15" /><meta name="citation_keywords" content="Large ribosomal subunit protein eL18" /><meta name="citation_keywords" content="Large ribosomal subunit protein eL27" /><meta name="citation_keywords" content="Large ribosomal subunit protein eL31" /><meta name="citation_keywords" content="Large ribosomal subunit protein eL33" /><meta name="citation_keywords" content="Large ribosomal subunit protein uL18" /><meta name="citation_keywords" content="Large ribosomal subunit protein uL24" /><meta name="citation_keywords" content="Large ribosomal subunit protein uL29" /><meta name="citation_keywords" content="Large ribosomal subunit protein uL5" /><meta name="citation_keywords" content="Pre-rRNA-processing protein TSR2 homolog" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS10" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS17" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS19" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS24" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS26" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS27" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS28" /><meta name="citation_keywords" content="Small ribosomal subunit protein eS7" /><meta name="citation_keywords" content="Small ribosomal subunit protein uS14" /><meta name="citation_keywords" content="Small ribosomal subunit protein uS8" /><meta name="citation_keywords" content="GATA1" /><meta name="citation_keywords" content="RPL11" /><meta name="citation_keywords" content="RPL15" /><meta name="citation_keywords" content="RPL18" /><meta name="citation_keywords" content="RPL26" /><meta name="citation_keywords" content="RPL27" /><meta name="citation_keywords" content="RPL31" /><meta name="citation_keywords" content="RPL35" /><meta name="citation_keywords" content="RPL35A" /><meta name="citation_keywords" content="RPL5" /><meta name="citation_keywords" content="RPS10" /><meta name="citation_keywords" content="RPS15A" /><meta name="citation_keywords" content="RPS17" /><meta name="citation_keywords" content="RPS19" /><meta name="citation_keywords" content="RPS24" /><meta name="citation_keywords" content="RPS26" /><meta name="citation_keywords" content="RPS27" /><meta name="citation_keywords" content="RPS28" /><meta name="citation_keywords" content="RPS29" /><meta name="citation_keywords" content="RPS7" /><meta name="citation_keywords" content="TSR2" /><meta name="citation_keywords" content="Diamond-Blackfan Anemia" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Diamond-Blackfan Anemia" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Colin Sieff" /><meta name="DC.Date" content="2023/03/23" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK7047/" /><meta name="description" content="Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma." /><meta name="og:title" content="Diamond-Blackfan Anemia" /><meta name="og:type" content="book" /><meta name="og:description" content="Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK7047/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/diamond-b/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK7047/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK7047_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK7047_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/dmtn/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/diastrophic-d/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK7047_"><span class="title" itemprop="name">Diamond-Blackfan Anemia</span></h1><p class="contrib-group"><span itemprop="author">Colin Sieff</span>, MBBCh, FRCPath.</p><a data-jig="ncbitoggler" href="#__NBK7047_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK7047_ai__"><div class="contrib half_rhythm"><span itemprop="author">Colin Sieff</span>, MBBCh, FRCPath<div class="affiliation small">Boston Children's Hospital and Dana Farber Cancer Institute<br />Harvard Medical School<br />Boston, Massachusetts<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.dravrah.snerdlihc@ffeis.niloc" class="oemail">ude.dravrah.snerdlihc@ffeis.niloc</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">June 25, 2009</span>; Last Revision: <span itemprop="dateModified">March 23, 2023</span>.</p><p><em>Estimated reading time: 33 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="diamond-b.Summary" itemprop="description"><h2 id="_diamond-b_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The clinical diagnosis can be established in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with macrocytic anemia with onset prior to age one year, no other significant cytopenias, reticulocytopenia, normal marrow cellularity with a paucity of erythroid precursors, and no evidence of another acquired or inherited disorder of bone marrow function.</p><p>The molecular diagnosis can be established in a female <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> by identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in one of the 22 genes associated with DBA.</p><p>The molecular diagnosis can be established in a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> by identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA or identification of a <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> pathogenic variant in <i>GATA1</i> or <i>TSR2</i> (associated with <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance).</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Corticosteroid treatment, recommended in children older than age 12 months, improves the red blood cell count in approximately 80% of affected individuals. Chronic transfusion with packed red blood cells is necessary during the first year of life to avoid steroid-induced toxicity in those not responsive to a trial of corticosteroids at age 12 months and in individuals who relapse. Hematopoietic stem cell transplantation, the only curative therapy for the hematologic manifestations of DBA, is often recommended for those who are transfusion dependent or develop other cytopenias. Ocular, skeletal, genitourinary, cardiac, and endocrine complications are best managed in collaboration with appropriate subspecialists. Treatment of malignancies should be coordinated by an oncologist. Chemotherapy must be given cautiously as it may lead to prolonged cytopenia and subsequent toxicities.</p><p><i>Prevention of secondary complications:</i> Transfusion-related iron overload is the most common complication in transfusion-dependent individuals. Iron chelation therapy with deferasirox orally or desferrioxamine subcutaneously is recommended after ten to 12 transfusions. Corticosteroid-related side effects must also be closely monitored, especially as related to risk for infection, growth deficiency, and loss of bone density in growing children. Often individuals will be placed on transfusion therapy if these side effects are intolerable.</p><p><i>Surveillance:</i> Complete blood counts several times a year; bone marrow aspirate/biopsy to evaluate morphology and cellularity only in the event of another cytopenia or a change in response to treatment. In steroid-dependent individuals: monitor blood pressure and (in children) growth. Evaluation by an endocrinologist for those who are steroid dependent and those at risk for transfusion iron overload. Cancer surveillance includes history, physical examination, and blood counts every four to six months. If red blood cell, white blood cell, or platelet counts fall rapidly, bone marrow aspirate with biopsy and <a class="def" href="/books/n/gene/glossary/def-item/cytogenetic/">cytogenetic</a> studies (including <a class="def" href="/books/n/gene/glossary/def-item/karyotype/">karyotype</a> and <a class="def" href="/books/n/gene/glossary/def-item/fish/">FISH</a> analysis) to look for acquired abnormalities in chromosomes 5, 7, and 8 that are associated with myelodysplastic syndrome or leukemia.</p><p><i>Agents/circumstances to avoid:</i> Deferiprone for the treatment of iron overload (which can cause neutropenia); infection (especially in individuals on corticosteroids).</p><p><i>Evaluation of relatives at risk:</i> Molecular genetic testing of at-risk relatives of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with a known <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> allows for early diagnosis and appropriate monitoring for bone marrow failure, physical abnormalities, and related cancers.</p><p><i>Pregnancy management:</i> Management by an obstetrician with expertise in high-risk pregnancies and hematologists with experience in bone marrow failure syndromes. During pregnancy the maternal hemoglobin level must be monitored. Use of low-dose aspirin up to 37 weeks' gestation may help prevent vasculo-placental complications in women with a history of a problematic pregnancy.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>DBA is most often inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner; <i>GATA1</i>-related and <i>TSR2-</i>related DBA are inherited in an <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner.</p><ul><li class="half_rhythm"><div><i>Autosomal dominant.</i> Approximately 40%-45% of individuals with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA have inherited the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a parent; approximately 55%-60% have a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variant. Each child of an individual with autosomal dominant DBA has a 50% chance of inheriting the pathogenic variant.</div></li><li class="half_rhythm"><div><i><a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a>.</i> Males with <i>GATA1-</i> or <i>TSR2-</i>related DBA pass the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to all of their daughters and none of their sons. Women <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for a <i>GATA1</i> or <i>TSR2</i> pathogenic variant have a 50% chance of transmitting the pathogenic variant in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will usually not be affected. Carrier testing of at-risk female relatives is possible if the <i>GATA1</i> or <i>TSR2</i> pathogenic variant has been identified in the family.</div></li></ul><p>Once the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at increased risk and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p></div></div><div id="diamond-b.Diagnosis"><h2 id="_diamond-b_Diagnosis_">Diagnosis</h2><div id="diamond-b.Suggestive_Findings"><h3>Suggestive Findings</h3><p>Diamond-Blackfan anemia (DBA) <b>should be suspected</b> in individuals with the following clinical, laboratory, and histopathologic features, and no evidence of another inherited disorder of bone marrow function.</p><p>
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<b>Clinical features</b>
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||
</p><ul><li class="half_rhythm"><div>Pallor, weakness, failure to thrive</div></li><li class="half_rhythm"><div>Growth deficiency (observed in 30%)</div></li><li class="half_rhythm"><div>Congenital malformations (observed in ~30%-50%); in particular craniofacial, upper-limb, heart, and genitourinary malformations</div></li></ul><p>
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<b>Laboratory features</b>
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||
</p><ul><li class="half_rhythm"><div>Macrocytic anemia with no other significant cytopenias</div></li><li class="half_rhythm"><div>Increased erythrocyte mean corpuscular volume</div></li><li class="half_rhythm"><div>Reticulocytopenia</div></li><li class="half_rhythm"><div>Elevated erythrocyte adenosine deaminase activity (eADA) (observed in 80%-85%)</div></li><li class="half_rhythm"><div>Elevated hemoglobin F concentration</div></li></ul><p>
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<b>Histopathology features (bone marrow aspirate)</b>
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</p><ul><li class="half_rhythm"><div>Normal marrow cellularity</div></li><li class="half_rhythm"><div>Erythroid hypoplasia</div></li><li class="half_rhythm"><div>Marked reduction in normoblasts</div></li><li class="half_rhythm"><div>Persistence of pronormoblasts on occasion</div></li><li class="half_rhythm"><div>Normal myeloid precursors and megakaryocytes</div></li></ul><p><b>Other.</b> Individuals show no evidence of another inherited disorder of bone marrow function. See <a href="#diamond-b.Differential_Diagnosis">Differential Diagnosis</a>.</p></div><div id="diamond-b.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The clinical diagnosis of DBA <b>can be established</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with all of the following clinical, laboratory, and histopathology features:</p><ul><li class="half_rhythm"><div>Macrocytic anemia with onset prior to age one year</div></li><li class="half_rhythm"><div>No other significant cytopenias</div></li><li class="half_rhythm"><div>Reticulocytopenia</div></li><li class="half_rhythm"><div>Normal marrow cellularity with a paucity of erythroid precursors</div></li><li class="half_rhythm"><div>No evidence of another acquired or inherited disorder of bone marrow function (See <a href="#diamond-b.Differential_Diagnosis">Differential Diagnosis</a>.)</div></li></ul><p>The molecular diagnosis <b>can be established in a female</b> <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> by identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variant in one of the genes listed in <a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobdiamondbTmoleculargenetictestingus">Table 1</a>.</p><p>The molecular diagnosis <b>can be established in a male</b> <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> by identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variant in one of the genes listed in <a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobdiamondbTmoleculargenetictestingus">Table 1</a> associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> inheritance, or a <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> pathogenic (or likely pathogenic) variant in <i>GATA1</i> or <i>TSR2</i> associated with <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> inheritance.</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and "<a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making [<a class="bk_pop" href="#diamond-b.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. (2) The identification of variant(s) of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> cannot be used to confirm or rule out the diagnosis.</p><p>Molecular testing approaches usually begin with <b>a <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> with analysis of DBA-related genes (rare DBA-related genes may not be included in a panel). Failure to identify a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> can be followed by more <b>comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>A <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> that includes the genes in <a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobdiamondbTmoleculargenetictestingus">Table 1</a> and other genes of interest (see <a href="#diamond-b.Differential_Diagnosis">Differential Diagnosis</a>). Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. (3) In some laboratories, panel options may include a custom laboratory-designed panel, custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis, and re-analysis of genes specified by the clinician. (4) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>More comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (when available) including <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> or <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a> may be considered if a <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a> fails to confirm a diagnosis in an individual with features of DBA.</div><div class="half_rhythm">For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</div></li></ul><div id="diamond-b.T.molecular_genetic_testing_us" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Diamond-Blackfan Anemia (DBA)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.T.molecular_genetic_testing_us_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" style="text-align:left;vertical-align:middle;">Gene <sup>1,2</sup></th><th id="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" style="text-align:left;vertical-align:middle;">Proportion of DBA Attributed to Pathogenic Variants in Gene</th><th id="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>3</sup> Detected by Method</th></tr><tr><th headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3" id="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>4,5</sup></th><th headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3" id="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> <sup>5,6</sup></th></tr></thead><tbody><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>GATA1</i> <sup>7</sup></td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><1% (5 families)</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL5</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">7%-12%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~95%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><5%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL9</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><1%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL11</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5%-7%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~90%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~10%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL15</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~20%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL18</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 family</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL26</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL27</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 persons</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL31</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL35</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 family</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 persons</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL35A</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2%-3%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~50%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS7</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS10</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1%-3%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~100%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS15A</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 family</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS17</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1%-3%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><35%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>65%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS19</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">25%-30%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~95%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~5%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS24</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2%-3%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~90%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS26</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">6.6%-9%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">>80%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><20%</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS27</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS28</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare (2 families)</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2 families</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS29</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~1%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~80%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 person</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TSR2</i>
|
||
</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1 family</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">None reported</td></tr><tr><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~20%</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_1_3 hd_h_diamond-b.T.molecular_genetic_testing_us_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Pathogenic variants of any one of the genes included in this table account for ≥1% of DBA.</p></div></dd><dt>1. </dt><dd><div id="diamond-b.TF.1.1"><p class="no_margin">Genes are listed in alphabetic order.</p></div></dd><dt>2. </dt><dd><div id="diamond-b.TF.1.2"><p class="no_margin">See <a href="/books/NBK7047/#diamond-b.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>3. </dt><dd><div id="diamond-b.TF.1.3"><p class="no_margin">See <a href="#diamond-b.Molecular_Genetics">Molecular Genetics</a> for information on variants detected in these genes.</p></div></dd><dt>4. </dt><dd><div id="diamond-b.TF.1.4"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>5. </dt><dd><div id="diamond-b.TF.1.5"><p class="no_margin">Data derived from the subscription-based professional view of Human Gene Mutation Database [<a class="bk_pop" href="#diamond-b.REF.stenson.2020.1197">Stenson et al 2020</a>]</p></div></dd><dt>6. </dt><dd><div id="diamond-b.TF.1.6"><p class="no_margin">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> detects intragenic deletions or duplications. Methods used may include a range of techniques such as <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a>, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted microarray designed to detect single-<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications.</p></div></dd><dt>7. </dt><dd><div id="diamond-b.TF.1.7"><p class="no_margin">There is not consensus as to whether individuals with a <i>GATA1</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> associated with overlapping clinical features of DBA should be diagnosed with <a href="/books/n/gene/gata1/"><i>GATA1</i>-related cytopenia</a> or DBA.</p></div></dd></dl></div></div></div></div></div><div id="diamond-b.Clinical_Characteristics"><h2 id="_diamond-b_Clinical_Characteristics_">Clinical Characteristics</h2><div id="diamond-b.Clinical_Description"><h3>Clinical Description</h3><p>Diamond-Blackfan anemia (DBA) is characterized by early-onset hypoplastic anemia. Congenital anomalies are observed in approximately 50% of affected individuals and more than one anomaly is observed in up to 25% of individuals. Additional features include growth deficiency and predisposition to malignancy.</p><div id="diamond-b.T.diamondblackfan_anemia_frequ" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Diamond-Blackfan Anemia: Frequency of Select Features</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.T.diamondblackfan_anemia_frequ/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.T.diamondblackfan_anemia_frequ_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Feature</th><th id="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of Persons<br />with Feature <sup>1</sup></th><th id="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Anemia</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">100%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">90% in 1st year of life</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Craniofacial features</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">27%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Upper limb anomalies</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">16%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Genitourinary malformations</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">13%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Heart defects</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">11%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Growth deficiency</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">30%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Malignancy</b>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2%-5%</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_frequ_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Acute myelogenous leukemia, myelodysplastic syndrome, & solid tumors incl osteogenic sarcoma & lung, colon, & cervical carcinomas</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="diamond-b.TF.2.1"><p class="no_margin"><a class="bk_pop" href="#diamond-b.REF.ball.1996.645">Ball et al [1996]</a>, <a class="bk_pop" href="#diamond-b.REF.ramenghi.2000.417">Ramenghi et al [2000]</a>, <a class="bk_pop" href="#diamond-b.REF.lipton.2006.558">Lipton et al [2006]</a></p></div></dd></dl></div></div></div><p><b>Anemia.</b> The primary hematologic feature of DBA is a profound normochromic, macrocytic anemia with normal leukocytes and platelets. The hematologic complications of DBA occur in 90% of affected individuals during the first year of life: the median age at presentation is two months and the median age at diagnosis is three months [<a class="bk_pop" href="#diamond-b.REF.bagby.2004.318">Bagby et al 2004</a>, <a class="bk_pop" href="#diamond-b.REF.ohga.2004.22">Ohga et al 2004</a>]. Treatment with corticosteroids is recommended in children older than age 12 months (see <a href="#diamond-b.Management">Management</a>). Approximately 70% of individuals respond but eventually 40% remain steroid dependent and 40% become transfusion dependent; 20% go into remission [<a class="bk_pop" href="#diamond-b.REF.chen.2005.669">Chen et al 2005</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</p><p><b>Craniofacial features</b> include microcephaly; hypertelorism, epicanthus, ptosis; microtia, low-set ears; broad, depressed nasal bridge; cleft lip/palate, high arched palate; micrognathia; low anterior hairline.</p><p><b>Eye</b> findings include <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> glaucoma, congenital cataract, strabismus.</p><p><b>Neck.</b> Features include webbing, short neck, Klippel-Feil anomaly, Sprengel deformity.</p><p><b>Upper limb and hand including thumb.</b> Findings include absent radial artery; flat thenar eminence; triphalangeal, duplex, bifid, hypoplastic, or absent thumb.</p><p><b>Genitourinary</b> findings include absent kidney, horseshoe kidney; hypospadias.</p><p><b>Heart</b> findings include ventricular septal defect, atrial septal defect, coarctation of the aorta, other cardiac anomalies.</p><p><b>Growth deficiency.</b> Low birth weight was reported in 25% of affected infants. Thirty percent of affected individuals have growth deficiency. Growth deficiency can be influenced by other factors including steroid treatment [<a class="bk_pop" href="#diamond-b.REF.chen.2005.669">Chen et al 2005</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</p><p><b>Malignancy.</b> DBA is associated with an increased risk for acute myelogenous leukemia, myelodysplastic syndrome, and solid tumors including osteogenic sarcoma [<a class="bk_pop" href="#diamond-b.REF.janov.1996.77">Janov et al 1996</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2001.377">Vlachos et al 2001</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2012.3815">Vlachos et al 2012</a>, <a class="bk_pop" href="#diamond-b.REF.alter.2018.30">Alter et al 2018</a>].</p><p><b>Development.</b> Rarely, developmental delay can occur [<a class="bk_pop" href="#diamond-b.REF.kuramitsu.2012.2376">Kuramitsu et al 2012</a>].</p><p><b>The phenotypic spectrum</b> is broad. Within the same family, affected individuals can have typical DBA or atypical phenotypes including (1) mild anemia; (2) no anemia with only subtle erythroid abnormalities such as macrocytosis, elevated erythrocyte adenosine deaminase activity, and/or increased hemoglobin F concentration; or (3) physical malformations without anemia. Others may have a severe form presenting with fetal anemia that results in nonimmune hydrops fetalis [<a class="bk_pop" href="#diamond-b.REF.dunbar.2003.391">Dunbar et al 2003</a>, <a class="bk_pop" href="#diamond-b.REF.saladi.2004.187">Saladi et al 2004</a>]. Onset of atypical DBA can be later than age one year.</p></div><div id="diamond-b.Phenotype_Correlations_by_Gene"><h3>Phenotype Correlations by Gene</h3><p><b><i>RPL5</i>.</b> Craniofacial, <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> heart, and thumb defects were more severe than those seen with pathogenic variants in <i>RPL11</i> and <i>RPS19</i> [<a class="bk_pop" href="#diamond-b.REF.gazda.2008.769">Gazda et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.quarello.2010.206">Quarello et al 2010</a>]. Cleft lip and/or cleft palate (CL/P) was reported in 45% of affected persons with <i>RPL5</i> pathogenic variants [<a class="bk_pop" href="#diamond-b.REF.gazda.2008.769">Gazda et al 2008</a>] and in 50% of an affected group of Italians with <i>RPL5</i> pathogenic variants [<a class="bk_pop" href="#diamond-b.REF.quarello.2010.206">Quarello et al 2010</a>]. Small gestational age was reported in seven (~88%) of eight individuals with an <i>RPL5</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> versus 43% of individuals with an <i>RPS19</i> pathogenic variant [<a class="bk_pop" href="#diamond-b.REF.cmejla.2009.321">Cmejla et al 2009</a>].</p><p><b><i>RPL11</i>.</b> Pathogenic variants in <i>RPL11</i> are predominantly associated with thumb abnormalities [<a class="bk_pop" href="#diamond-b.REF.gazda.2008.769">Gazda et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.cmejla.2009.321">Cmejla et al 2009</a>].</p></div><div id="diamond-b.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>Many pathogenic variants are unique to a family and no <a class="def" href="/books/n/gene/glossary/def-item/genotype-phenotype-correlations/">genotype-phenotype correlations</a> have been confirmed.</p></div><div id="diamond-b.Penetrance"><h3>Penetrance</h3><p>Penetrance is almost complete with <a class="def" href="/books/n/gene/glossary/def-item/loss-of-function/">loss-of-function</a> variants in <i>RPL5</i>, <i>RPS19</i>, and <i>RPS26.</i> Penetrance is high with loss-of-function variants in other genes that encode ribosomal subunits. Missense variants (e.g., of <i>RPS19</i>) appear to be less penetrant [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</p></div><div id="diamond-b.Nomenclature"><h3>Nomenclature</h3><p>Diamond-Blackfan anemia has previously been known as <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> hypoplastic anemia of Blackfan and Diamond, congenital hypoplastic anemia, Blackfan-Diamond syndrome, Aase syndrome, and Aase-Smith syndrome II.</p></div><div id="diamond-b.Prevalence"><h3>Prevalence</h3><p>The incidence of DBA is estimated at between 1:100,000 and 1:200,000 live births; incidence remains consistent across ethnicities [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</p></div></div><div id="diamond-b.Genetically_Related_Allelic_Di"><h2 id="_diamond-b_Genetically_Related_Allelic_Di_">Genetically Related (Allelic) Disorders</h2><p>No phenotypes other than those discussed in this <i>GeneReview</i> are known to be associated with <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> pathogenic variants in <i>RPL5</i>, <i>RPL9</i>, <i>RPL11</i>, <i>RPL15</i>, <i>RPL18</i>, <i>RPL26</i>, <i>RPL27</i>, <i>RPL31</i>, <i>RPL35</i>, <i>RPL35A</i>, <i>RPS7</i>, <i>RPS10</i>, <i>RPS15A</i>, <i>RPS17</i>, <i>RPS19</i>, <i>RPS24</i>, <i>RPS26</i>, <i>RPS27</i>, <i>RPS28</i>, <i>RPS29</i>, or <i>TSR2.</i></p><p><b><i>GATA1</i>.</b> Other <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> pathogenic variants in <i>GATA1</i> may lead to <a href="/books/n/gene/gata1/"><i>GATA1</i>-related cytopenia</a> in males, which is characterized by thrombocytopenia and/or anemia ranging from mild to severe and one or more of the following: platelet dysfunction, mild β-thalassemia, neutropenia, <a href="/books/n/gene/cep/">congenital erythropoietic porphyria</a>. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding decrease spontaneously with age. Females may have mild-to-moderate findings, such as menorrhagia.</p><p>Acquired (somatic) <i>GATA1</i> pathogenic variants are also found in neonates with Down syndrome with transient abnormal myelopoiesis;10%-20% of these neonates will develop acute megakaryoblastic leukemia [<a class="bk_pop" href="#diamond-b.REF.bhatnagar.2016.333">Bhatnagar et al 2016</a>].</p></div><div id="diamond-b.Differential_Diagnosis"><h2 id="_diamond-b_Differential_Diagnosis_">Differential Diagnosis</h2><p>Because of the difficulty of establishing the diagnosis of Diamond-Blackfan anemia (DBA), in some instances the diagnosis may only be established after other disorders in the differential diagnoses have been ruled out.</p><div id="diamond-b.Transient_Erythroblastopenia_o"><h3>Transient Erythroblastopenia of Childhood</h3><p>Transient erythroblastopenia of childhood (TEC) (OMIM <a href="https://omim.org/entry/227050" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">227050</a>) is characterized by acquired anemia caused by decreased production of red blood cell precursors in a previously healthy child. The etiology of TEC is unknown, although an association with viral infections has been proposed. TEC is almost always self-resolving within one to several months and only requires clinical intervention (red blood cell transfusion) in severe cases. Features that distinguish TEC from DBA include older age at diagnosis: more than 80% of children with TEC are age one year or older at diagnosis. Only 10% of children with TEC have elevated erythrocyte adenosine deaminase activity. In children with TEC, anemia is normocytic.</p></div><div id="diamond-b.Other_Genetic_Conditions_with"><h3>Other Genetic Conditions with Bone Marrow Failure</h3><div id="diamond-b.T.differential_diagnosis_of_di" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p>Differential Diagnosis of Diamond-Blackfan Anemia: Genetic Conditions with Bone Marrow Failure</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.T.differential_diagnosis_of_di/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.T.differential_diagnosis_of_di_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene</th><th id="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Disorder</th><th id="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Clinical Characteristics</th></tr></thead><tbody><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>ACD</i>
|
||
<br />
|
||
<i>CTC1</i>
|
||
<br />
|
||
<i>DKC1</i>
|
||
<br />
|
||
<i>NHP2</i>
|
||
<br />
|
||
<i>NOP10</i>
|
||
<br />
|
||
<i>PARN</i>
|
||
<br />
|
||
<i>RTEL1</i>
|
||
<br />
|
||
<i>TERC</i>
|
||
<br />
|
||
<i>TERT</i>
|
||
<br />
|
||
<i>TINF2</i>
|
||
<br />
|
||
<i>WRAP53</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dkc/">Dyskeratosis congenita</a> (DC)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">XL<br />AD<br />AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Telomere biology disorder characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper chest &/or neck, & oral leukoplakia (triad may not be present in all persons). ↑ risk for progressive BMF, MDS or acute AML, solid tumors, & pulmonary fibrosis.</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>ADA2</i><br />(<i>CECR1</i>)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/ada2-def/">Adenosine deaminase 2 (ADA2) deficiency</a>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Vasculitis &/or a DBA <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> in persons w/ADA2 deficiency</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><i>BRCA2</i><br /><i>BRIP1</i><br /><i>FANCA</i><br /><i>FANCB</i><br /><i>FANCC</i><br /><i>FANCD2</i><br /><i>FANCE</i><br /><i>FANCF</i><br /><i>FANCG</i><br /><i>FANCI</i><br />(21 genes <sup>1</sup>)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/fa/">Fanconi anemia</a> (FA)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD<br />XL</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Physical abnormalities (~75% of affected persons): short stature, abnormal skin pigmentation, skeletal malformations, microcephaly, ophthalmic & genitourinary tract anomalies. Progressive BMF w/pancytopenia. ↑ risk hematologic malignancies (AML) & solid tumors (head & neck, skin, GI tract, & genital tract).</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DNAJC21</i>
|
||
<br />
|
||
<i>EFL1</i>
|
||
<br />
|
||
<i>SBDS</i>
|
||
<br />
|
||
<i>SRP54</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/sds/">Shwachman-Diamond syndrome</a> (SDS)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Exocrine pancreatic dysfunction w/malabsorption, malnutrition, growth failure, bone abnormalities, persistent or intermittent neutropenia, & recurrent infections; cytopenias & susceptibility to MDS & AML.</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>EPO</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DBA-like (OMIM <a href="https://omim.org/entry/617911" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">617911</a>)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare pathogenic variants can present w/PRCA but will respond to treatment w/recombinant EPO, unlike DBA.</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mitochondrial<br />DNA <sup>2</sup></td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Pearson syndrome (See <a href="/books/n/gene/kss/">Mitochondrial DNA Deletion Syndromes</a>.)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mat</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sideroblastic anemia of childhood, pancytopenia, exocrine pancreatic failure, & renal tubular defects. Progressive liver failure & intractable metabolic acidosis typically result in death in infancy. Those who survive develop neurologic symptoms.</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYSM1</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Bone marrow failure syndrome 4 (OMIM <a href="https://omim.org/entry/618116" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">618116</a>)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Transfusion-dependent anemia in early childhood w/other cytopenias</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>NHEJ1</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">SCID w/microcephaly, growth retardation, & sensitivity to ionizing radiation (OMIM <a href="https://omim.org/entry/611291" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">611291</a>)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Immunodeficiency & <a class="def" href="/books/n/gene/glossary/def-item/dysmorphic/">dysmorphic</a> facies; 50% have anemia & thrombocytopenia.</td></tr><tr><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RMRP</i>
|
||
</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/chh/">Cartilage-hair hypoplasia – anauxetic dysplasia</a> (CHH-AD)</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_diamond-b.T.differential_diagnosis_of_di_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Severe short-limb short stature usually present in newborns; joint hypermobility, fine silky hair, immunodeficiency, anemia, ↑ risk for malignancy, gastrointestinal dysfunction, & impaired spermatogenesis. Clinical manifestations are variable even w/in a family.</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AML = acute myeloid leukemia; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; BMF = bone marrow failure; DBA = Diamond-Blackfan anemia; DD = developmental delay; EPO = erythropoietin; Mat = maternal; MDS = myelodysplastic syndrome; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a>; PRCA = acquired pure red cell aplasia; SCID = severe combined immunodeficiency; XL = <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a></p></div></dd><dt>1. </dt><dd><div id="diamond-b.TF.3.1"><p class="no_margin">Listed genes represent the most commonly associated genes. See <a href="/books/n/gene/fa/">Fanconi Anemia</a> for other genes associated with this <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>.</p></div></dd><dt>2. </dt><dd><div id="diamond-b.TF.3.2"><p class="no_margin">Pearson syndrome is most often caused by <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> deletions in mitochondrial DNA; rearrangements (large-scale partial deletions and duplications) have also been found [<a class="bk_pop" href="#diamond-b.REF.morel.2009.311">Morel et al 2009</a>].</p></div></dd></dl></div></div></div></div><div id="diamond-b.Acquired_Conditions_with_Bone"><h3>Acquired Conditions with Bone Marrow Failure</h3><p>
|
||
<b>Infections</b>
|
||
</p><ul><li class="half_rhythm"><div>Parvovirus B19 infection; usually asymptomatic, but occasionally can cause red cell aplasia, which is most often mild and self-limited by production of virus-neutralizing antibodies in the host [<a class="bk_pop" href="#diamond-b.REF.parekh.2005.54">Parekh et al 2005</a>]. However, in persons with hereditary or acquired anemia, parvovirus infection can be severe and life-threatening, requiring red blood cell transfusions. Seropositivity for parvovirus reaches 50% by age 15 years and 90% in the elderly.</div></li><li class="half_rhythm"><div>HIV; associated with pure red cell aplasia (PRCA)</div></li><li class="half_rhythm"><div>Viral hepatitis</div></li><li class="half_rhythm"><div>Mononucleosis and human T-cell lymphotropic virus type 1</div></li></ul><p>
|
||
<b>Drugs and toxins</b>
|
||
</p><ul><li class="half_rhythm"><div>Anti-seizure medications: diphenylhydantoin, sodium valproate, carbamazepine, sodium dipropylacetate</div></li><li class="half_rhythm"><div>Others: azathioprine; chloramphenicol and thiamphenicol; sulfonamides; isoniazid; procainamide</div></li></ul><p>
|
||
<b>Immune-mediated diseases</b>
|
||
</p><ul><li class="half_rhythm"><div>Thymoma, most commonly associated with PRCA. Approximately 5%-10% of persons with thymoma develop PRCA.</div></li><li class="half_rhythm"><div>Myasthenia gravis, systemic lupus erythematosus, and multiple endocrinopathies</div></li></ul></div></div><div id="diamond-b.Management"><h2 id="_diamond-b_Management_">Management</h2><div id="diamond-b.Evaluations_Following_Initial"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with Diamond-Blackfan anemia (DBA), the evaluations summarized in <a href="/books/NBK7047/table/diamond-b.T.recommended_evaluations_foll/?report=objectonly" target="object" rid-ob="figobdiamondbTrecommendedevaluationsfoll">Table 4</a> (if not performed as part of the evaluation that led to the diagnosis) are recommended.</p><div id="diamond-b.T.recommended_evaluations_foll" class="table"><h3><span class="label">Table 4. </span></h3><div class="caption"><p>Recommended Evaluations Following Initial Diagnosis in Individuals with Diamond-Blackfan Anemia</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.T.recommended_evaluations_foll/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.T.recommended_evaluations_foll_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">System/Concern</th><th id="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Evaluation</th><th id="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th></tr></thead><tbody><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Anemia</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval by hematologist for macrocytosis & reticulocytopenia</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Macrocytosis is not always present.</td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Congenital</b>
|
||
<br />
|
||
<b>anomalies</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval by clinical geneticist for <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> malformations</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Eyes</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Ophthalmology eval for glaucoma & cataract for persons on steroid therapy</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Skeletal</b>
|
||
<br />
|
||
<b>anomalies</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Orthopedic eval for persons w/:
|
||
<ul><li class="half_rhythm"><div>Clinical findings suggestive of Klippel-Feil anomaly or Sprengel deformity</div></li><li class="half_rhythm"><div>Upper-limb &/or thumb anomalies</div></li></ul>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Genitourinary</b>
|
||
<br />
|
||
<b>anomalies</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Eval by nephrologist & urologist as appropriate</div></li><li class="half_rhythm"><div>Ultrasound exam of kidneys & urinary tract</div></li></ul>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Cardiology</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Eval by cardiologist incl echocardiography</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Endocrine</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Growth assessment</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Development</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Developmental assessment</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Genetic</b>
|
||
<br />
|
||
<b>counseling</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">By genetics professionals <sup>1</sup></td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">To inform affected persons & their families re nature, MOI, & implications of DBA in order to facilitate medical & personal decision making</td></tr><tr><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<b>Family support</b>
|
||
<br />
|
||
<b>& resources</b>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Assess need for:
|
||
<ul><li class="half_rhythm"><div>Community or <a href="#diamond-b.Resources">online resources</a> such as <a href="https://www.p2pusa.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Parent to Parent</a>;</div></li><li class="half_rhythm"><div>Social work involvement for parental support;</div></li><li class="half_rhythm"><div>Home nursing referral.</div></li></ul>
|
||
</td><td headers="hd_h_diamond-b.T.recommended_evaluations_foll_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">DBA = Diamond-Blackfan anemia; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="diamond-b.TF.4.1"><p class="no_margin">Medical geneticist, certified genetic counselor, certified advanced genetic nurse</p></div></dd></dl></div></div></div></div><div id="diamond-b.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p><b>Anemia.</b> Corticosteroids can initially improve the red blood count in approximately 80% of affected individuals.</p><ul><li class="half_rhythm"><div>The recommended corticosteroid is prednisone with a starting dose of 2 mg/kg/day given orally once a day in the morning, beginning after age 12 months and ten days to two weeks after a transfusion. An increase in hemoglobin and reticulocyte count is usually seen in two to four weeks. If there is no response by three weeks, steroids can be tapered over two weeks.</div></li><li class="half_rhythm"><div>Corticosteroids may be slowly tapered to the minimal effective dose. Monitoring of blood counts is needed to ensure that the red cell hemoglobin concentration remains at 80-100 g/L, the minimum required for transfusion independence.</div></li><li class="half_rhythm"><div>The corticosteroid maintenance dose varies and can be extremely low in some individuals. Concerns about the long-term effects of steroids have led to the recommendation of 0.25 mg/kg/day as a preferable maximum daily dose.</div></li><li class="half_rhythm"><div>If after approximately one month the recommended steroid dose does not sustain the red cell hemoglobin concentration in an acceptable range, the corticosteroids should be tapered and discontinued.</div></li></ul><p>Side effects of corticosteroids include osteoporosis, weight gain, cushingoid appearance, hypertension, diabetes mellitus, growth restriction, pathologic bone fractures, gastric ulcers, cataracts, glaucoma, and increased susceptibility to infection.</p><p><b>Red blood cell transfusion.</b> If the individual is resistant to corticosteroid therapy, chronic transfusion with packed red blood cells is necessary. The goal of transfusion therapy is a red cell hemoglobin concentration of 80-100 g/L, which is usually adequate for maintaining growth and development.</p><p><b>Hematopoietic stem cell transplantation (HSCT)</b> is the only curative therapy for DBA. Persons with DBA who are transfusion dependent or develop other cytopenias are often treated with HSCT.</p><p>In one study of 61 persons with DBA who underwent bone marrow transplantation (BMT), the majority (67%) received their bone marrow grafts from an HLA-matched related donor. The three-year probability of overall survival was 64% (range 50%-74%). Transplantation from an HLA-identical sib donor was associated with better survival [<a class="bk_pop" href="#diamond-b.REF.roy.2005.600">Roy et al 2005</a>].</p><p>The Diamond-Blackfan Anemia Registry of North America describes 36 individuals who underwent HSCT: 21 HLA-matched sib HSCTs and 15 alternative donor HSCTs. Survival greater than five years from HSCT for allogeneic sib transplants was 72.7% ±10.7% versus survival greater than five years from alternative donor transplants of 17.1% ±11.9% [<a class="bk_pop" href="#diamond-b.REF.lipton.2006.558">Lipton et al 2006</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>]. Survival was the best (92.3%) for children younger than age ten years transplanted using an HLA-matched sib.</p><p>In a French/German HSCT study of 70 children with DBA, a matched sib donor was available for 45 individuals, a 10/10 HLA matched unrelated donor in 12 individuals, a 9/10 HLA matched unrelated donor in seven individuals, and a less compatible or incomplete HLA matched donor in six individuals. Overall survival was 91% with no difference by donor type. All individuals engrafted; one individual had secondary graft failure. The difference in chronic GVHD between children transplanted before age ten years compared with older individuals did not reach statistical significance.</p><p>Note: (1) It is recommended that the affected individual, sibs, and parents undergo HLA typing at the time of diagnosis of DBA to identify the most suitable bone marrow donor in the event that HSCT would be required. (2) Because <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> of DBA is incomplete, it is possible that a relative considered as a bone marrow donor could have a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but not manifest findings of DBA. (3) Relatives with a pathogenic variant, regardless of their clinical status, are not suitable bone marrow donors, because their donated bone marrow may fail or not engraft in the recipient.</p><p>
|
||
<b>Treatment of other manifestations</b>
|
||
</p><ul><li class="half_rhythm"><div><b>Glaucoma and cataract.</b> As recommended by ophthalmologist</div></li><li class="half_rhythm"><div><b>Skeletal anomalies.</b> Surgical management of thumb anomalies as recommended by orthopedist; occupational and physical therapy as needed</div></li><li class="half_rhythm"><div><b>Genitourinary malformations.</b> Managed as recommended by nephrologist and/or urologist</div></li><li class="half_rhythm"><div><b>Congenital heart defects.</b> As recommended by cardiologist</div></li><li class="half_rhythm"><div><b>Cancer.</b> Treatment of malignancies coordinated by oncologist</div></li></ul></div><div id="diamond-b.Prevention_of_Secondary_Compli"><h3>Prevention of Secondary Complications</h3><p><b>Transfusion iron overload</b> is the most common complication in transfusion-dependent individuals. The following methods are used both to assess for evidence of transfusion iron overload and to evaluate the effectiveness of iron chelation therapy:</p><ul><li class="half_rhythm"><div>Measurement of iron concentration in a liver biopsy specimen, which accurately determines total body iron accumulation</div></li><li class="half_rhythm"><div>T<sub>2</sub>*-weighted MRI for assessing iron loading in the liver and heart</div></li><li class="half_rhythm"><div>Magnetic biosusceptometry (SQUID), which gives a measurement of hepatic iron concentration</div></li></ul><p>Note: (1) Although the latter two methods of total iron measurement are noninvasive, SQUID is not widely available. MRI is now more widely available and referral to a center with experience in this technique is advisable to obtain a baseline measurement and to more conveniently follow progress after starting chelation therapy. Although liver biopsy is the "gold standard" [<a class="bk_pop" href="#diamond-b.REF.cappellini.2008.663">Cappellini & Piga 2008</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>] it is not a practical choice for long-term follow up. (2) Routine measurement of serum ferritin concentration is not reliable in detecting iron overload because the serum ferritin concentration does not always correlate with total body iron accumulation.</p><p><b>Iron chelation therapy</b> is usually started after ten to 12 transfusions (170-200 mL/kg of packed red blood cells), when serum ferritin concentration reaches 1,000-1,500 µg/L, or when hepatic iron concentration reaches 6-7 mg/g of dry weight liver tissue.</p><ul><li class="half_rhythm"><div><b>Deferasirox</b> is recommended in individuals age two years or older. It is administered once daily in an oral dose of 20-30 mg/kg/day. Side effects are usually mild and include rash, nausea, creatinine elevation, and rarely proteinuria and transaminase elevation. In affected individuals, satisfaction with deferasirox is greater than with desferrioxamine, mostly because of ease of administration [<a class="bk_pop" href="#diamond-b.REF.cappellini.2008.663">Cappellini & Piga 2008</a>, <a class="bk_pop" href="#diamond-b.REF.porter.2008.168">Porter et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</div></li><li class="half_rhythm"><div><b>Desferrioxamine</b> is administered four to seven nights a week in an eight- to 12-hour subcutaneous infusion via a portable pump. The recommended initial dose is 40 mg/kg/day; the maximum dose is 50-60 mg/kg/day. The dose and frequency of infusion may be modified using the serum ferritin concentration or the hepatic iron concentration as a guide [<a class="bk_pop" href="#diamond-b.REF.cappellini.2008.663">Cappellini & Piga 2008</a>, <a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>]. Side effects include ocular and auditory toxicity and growth deficiency. Compliance rate is hampered by the demanding administration route and schedule.</div></li></ul><p>Note: Deferiprone is not recommended in the treatment of iron overload in individuals with DBA [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>] because its side effects include neutropenia [<a class="bk_pop" href="#diamond-b.REF.henter.2007.5157">Henter & Karlen 2007</a>].</p><p><b>Side effects of corticosteroids</b> include osteoporosis, weight gain, cushingoid appearance, hypertension, diabetes mellitus, growth deficiency, pathologic bone fractures, gastric ulcers, cataracts, glaucoma, and increased susceptibility to infection [<a class="bk_pop" href="#diamond-b.REF.alter.1998">Alter & Young 1998</a>, <a class="bk_pop" href="#diamond-b.REF.willig.1999.4294">Willig et al 1999</a>, <a class="bk_pop" href="#diamond-b.REF.lipton.2006.558">Lipton et al 2006</a>].</p><p>One of the critical side effects of corticosteroids is growth deficiency. If growth is severely impaired, corticosteroids should be stopped and replaced by a short-term red blood cell transfusion regimen [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</p></div><div id="diamond-b.Surveillance"><h3>Surveillance</h3><p>The following are indicated:</p><ul><li class="half_rhythm"><div>Complete blood counts several times a year</div></li><li class="half_rhythm"><div>Bone marrow aspirate/biopsy to evaluate morphology and cellularity, if evidence of another cytopenia or failure of current treatment is noted</div></li><li class="half_rhythm"><div>Monitoring of blood pressure in individuals who are steroid dependent</div></li><li class="half_rhythm"><div>Monitoring of growth in individuals who are steroid dependent and in those at risk for transfusion iron overload</div></li><li class="half_rhythm"><div>Evaluation by an endocrinologist; recommended for individuals who are steroid dependent and those at risk for transfusion iron overload</div></li></ul><p>Cancer surveillance includes the following:</p><ul><li class="half_rhythm"><div>In individuals with DBA who are otherwise healthy, every four to six months: an interim history, physical examination, and measurement of blood count</div></li><li class="half_rhythm"><div>If red blood cell, white blood cell, or platelet counts fall rapidly, bone marrow aspirate with biopsy and <a class="def" href="/books/n/gene/glossary/def-item/cytogenetic/">cytogenetic</a> studies (including <a class="def" href="/books/n/gene/glossary/def-item/karyotype/">karyotype</a> and <a class="def" href="/books/n/gene/glossary/def-item/fish/">FISH</a> analysis) to look for acquired abnormalities in chromosomes 5, 7, and 8 that are associated with certain cancers [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>]</div></li></ul></div><div id="diamond-b.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Deferiprone is not recommended in the treatment of iron overload in persons with DBA because its side effects include neutropenia [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</p><p>Individuals with DBA, especially those on corticosteroid treatment, should take reasonable precautions to avoid infections, as steroid-dependent individuals are more prone to complications resulting from immune system dysfunction.</p></div><div id="diamond-b.Evaluation_of_Relatives_at_Ris"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to evaluate apparently asymptomatic older and younger at-risk relatives of an affected individual to allow early diagnosis and appropriate monitoring for bone marrow failure, physical abnormalities, and related cancers. Evaluations include:</p><ul><li class="half_rhythm"><div>Molecular genetic testing if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family is known;</div></li><li class="half_rhythm"><div>Consideration of other testing (e.g., mean corpuscular volume, erythrocyte adenosine deaminase activity, and/or fetal hemoglobin concentration) if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family is not known – especially of relatives being considered as bone marrow donors [<a class="bk_pop" href="#diamond-b.REF.vlachos.2008.859">Vlachos et al 2008</a>].</div></li></ul><p>See <a href="#diamond-b.Related_Genetic_Counseling_Iss">Genetic Counseling</a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="diamond-b.Pregnancy_Management"><h3>Pregnancy Management</h3><p>Management of pregnancy in women with DBA requires obstetricians with expertise in high-risk pregnancies and hematologists with experience with bone marrow failure syndromes [<a class="bk_pop" href="#diamond-b.REF.alter.1999.49">Alter et al 1999</a>, <a class="bk_pop" href="#diamond-b.REF.taher.2020.e446">Taher et al 2020</a>].</p><p>During pregnancy the maternal hemoglobin level must be monitored.</p><p>Use of low-dose aspirin up to 37 weeks' gestation may help prevent vasculo-placental complications in women with a history of a previous problematic pregnancy [<a class="bk_pop" href="#diamond-b.REF.faivre.2006.530">Faivre et al 2006</a>].</p><p>A study that surveyed 64 pregnancies in women with DBA found a high incidence of complications in both mothers and children. Risks include the following [<a class="bk_pop" href="#diamond-b.REF.faivre.2006.530">Faivre et al 2006</a>]:</p><ul><li class="half_rhythm"><div>Intrauterine growth restriction</div></li><li class="half_rhythm"><div>Preeclampsia</div></li><li class="half_rhythm"><div>Retroplacental hematoma</div></li><li class="half_rhythm"><div>In utero fetal death</div></li><li class="half_rhythm"><div>Preterm delivery</div></li></ul></div><div id="diamond-b.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="diamond-b.Genetic_Counseling"><h2 id="_diamond-b_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="diamond-b.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Most often, Diamond-Blackfan anemia (DBA) is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner. <i>GATA1</i>-related DBA and <i>TSR2</i>-related DBA are inherited in an <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> manner.</p></div><div id="diamond-b.Autosomal_Dominant_Inheritance"><h3>Autosomal Dominant Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div class="half_rhythm">Approximately 40%-45% of individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA inherited a DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a parent who may or may not have manifestations of DBA [<a class="bk_pop" href="#diamond-b.REF.orfali.2004.243">Orfali et al 2004</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">Approximately 55%-60% of individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div class="half_rhythm">If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> appears to be the only affected family member (i.e., a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case), <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> is recommended for the parents of the proband to confirm their genetic status and to allow reliable <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> counseling.</div><div class="half_rhythm">Note<i>:</i> If a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has not been identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>, other testing options for the parents can be considered (e.g., mean corpuscular volume, erythrocyte adenosine deaminase activity, and/or fetal hemoglobin concentration).</div></li><li class="half_rhythm"><div class="half_rhythm">If the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is not identified in either parent, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. Note: A pathogenic variant is reported as "<i>de novo</i>" if: (1) the pathogenic variant found in the proband is not detected in parental DNA; and (2) parental identity testing has confirmed biological maternity and paternity. If parental identity testing is not performed, the variant is reported as "assumed <i>de novo</i>" [<a class="bk_pop" href="#diamond-b.REF.richards.2015.405">Richards et al 2015</a>].</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> inherited a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a mosaic parent. Parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> is suggested in a family described by <a class="bk_pop" href="#diamond-b.REF.cmejla.2000.124">Cmejla et al [2000]</a> in which neither parent of two affected sibs had the DBA-causing pathogenic variant identified in the affected sibs. Note: Testing of parental leukocyte DNA may not detect all instances of <a class="def" href="/books/n/gene/glossary/def-item/somatic-mosaicism/">somatic mosaicism</a> and will not detect a pathogenic variant that is present in the germ cells only.</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> inherited a DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a parent who subsequently developed somatically acquired <a class="def" href="/books/n/gene/glossary/def-item/loss-of-heterozygosity/">loss of heterozygosity</a> with preferential loss of the <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> with the DBA-causing pathogenic variant. This scenario may cause a false negative molecular result when testing leukocyte DNA (see <a href="#diamond-b.Molecular_Pathogenesis">Molecular Pathogenesis</a>) [<a class="bk_pop" href="#diamond-b.REF.venugopal.2017.e506">Venugopal et al 2017</a>, <a class="bk_pop" href="#diamond-b.REF.garelli.2019.994">Garelli et al 2019</a>].</div></li></ul></li><li class="half_rhythm"><div class="half_rhythm">The family history of some individuals diagnosed with DBA may appear to be negative because of failure to recognize the disorder in family members, reduced <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a>, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent. Therefore, an apparently negative family history cannot be confirmed unless <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> has demonstrated that neither parent is <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is affected with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA and/or is known to have the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the proband, the risk to the sibs of inheriting the pathogenic variant is 50%.</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> of DBA in <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> sibs is high but may vary somewhat depending on the <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (see <a href="#diamond-b.Penetrance">Penetrance</a>). In affected heterozygous sibs, the clinical manifestations of DBA are unpredictable and can range, in the same family, from typical and atypical DBA phenotypes to a severe form presenting with fetal anemia resulting in nonimmune hydrops fetalis (see <a href="#diamond-b.Clinical_Description">Clinical Description</a>).</div></li><li class="half_rhythm"><div>If the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is not detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is presumed to be slightly greater than that of the general population for one of two possible reasons:</div><ul><li class="half_rhythm"><div>Parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> for the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> [<a class="bk_pop" href="#diamond-b.REF.cmejla.2000.124">Cmejla et al 2000</a>]; or</div></li><li class="half_rhythm"><div>A false negative result in a parent due to preferential loss of the <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> with the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (see <a href="#diamond-b.Molecular_Pathogenesis">Molecular Pathogenesis</a>).</div></li></ul></li><li class="half_rhythm"><div>If the parents have not been tested for the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but are clinically unaffected, sibs are still presumed to be at increased risk for DBA for one of two possible reasons:</div><ul><li class="half_rhythm"><div>A parent has <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>; or</div></li><li class="half_rhythm"><div>A parent is <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> but does not have apparent manifestations of DBA because of reduced <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> or <a class="def" href="/books/n/gene/glossary/def-item/variable-expressivity/">variable expressivity</a>.</div></li></ul></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Each child of an individual with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> DBA has a 50% chance of inheriting the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> The risk to other family members depends on the genetic status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if a parent has a DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the parent's family members may be at risk.</p></div><div id="diamond-b.XLinked_Inheritance__Risk_to_F"><h3>X-Linked Inheritance – Risk to Family Members</h3><p>
|
||
<b>Parents of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>The father of a male with <i>GATA1-</i> or <i>TSR2</i>-related DBA will not have the disorder nor will he be <a class="def" href="/books/n/gene/glossary/def-item/hemizygous/">hemizygous</a> for the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>; therefore, he does not require further evaluation/testing.</div></li><li class="half_rhythm"><div>In a family with more than one affected individual, the mother of an affected male is an <a class="def" href="/books/n/gene/glossary/def-item/obligate-heterozygote/">obligate heterozygote</a>. Note: If a woman has more than one affected child and no other affected relatives and if the <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in her leukocyte DNA, she most likely has <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>. (No data on the possibility or frequency of germline mosaicism in the mother are available.)</div></li><li class="half_rhythm"><div>If a male is the only affected family member (i.e., a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case), the mother may be a <a class="def" href="/books/n/gene/glossary/def-item/heterozygote/">heterozygote</a>, the affected male may have a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a>
|
||
<i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (in which case the mother is not a <a class="def" href="/books/n/gene/glossary/def-item/carrier/">carrier</a>), or the mother may have somatic/<a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>. (The frequency of <i>de novo</i> pathogenic variants is not currently known.)</div></li><li class="half_rhythm"><div>Molecular genetic testing of the mother is recommended to confirm her genetic status and to allow reliable <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> assessment.</div></li></ul><p><b>Sibs of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to sibs of a male proband depends on the genetic status of the mother:</p><ul><li class="half_rhythm"><div>If the mother of an affected male has a <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the chance of transmitting it in each pregnancy is 50%.</div><ul><li class="half_rhythm"><div>Males who inherit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> will be affected;</div></li><li class="half_rhythm"><div>Females who inherit the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> will be heterozygotes and will usually not be affected.</div></li></ul></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> represents a <a class="def" href="/books/n/gene/glossary/def-item/simplex/">simplex</a> case (i.e., a single occurrence in a family) and if the <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> cannot be detected in the leukocyte DNA of the mother, the risk to sibs is presumed to be low but greater than that of the general population because of the possibility of maternal <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Offspring of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Affected males transmit the <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> to all of their daughters and none of their sons.</p><p><b>Other family members.</b> The maternal aunts and maternal cousins of a male <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> may be at risk of having a <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p>Note: Molecular genetic testing may be able to identify the family member in whom a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> arose, information that could help determine the genetic risk status of the extended family.</p><p><b>Heterozygote detection.</b> Identification of female heterozygotes is possible once a <i>GATA1</i> or <i>TSR2</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member.</p><p>Note: Females who are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for <a class="def" href="/books/n/gene/glossary/def-item/x-linked/">X-linked</a> DBA will usually not be affected.</p></div><div id="diamond-b.Related_Genetic_Counseling_Iss"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#diamond-b.Evaluation_of_Relatives_at_Ris">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.</div></li></ul><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see <a class="bk_pop" href="#diamond-b.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="diamond-b.Prenatal_Testing_and_Preimplan"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the DBA-causing <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member, prenatal and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> for DBA are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.</p></div></div><div id="diamond-b.Resources"><h2 id="_diamond-b_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>Diamond Blackfan Anemia Foundation, Inc. (DBAF)</b>
|
||
</div><div>PO Box 1092</div><div>West Seneca NY 14224</div><div><b>Phone:</b> 716-674-2818</div><div><b>Email:</b> dbafoundation@juno.com</div><div>
|
||
<a href="http://www.dbafoundation.org" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.dbafoundation.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Cancer Institute (NCI)</b>
|
||
</div><div><b>Phone:</b> 800-422-6237</div><div><b>Email:</b> NCIinfo@nih.gov</div><div>
|
||
<a href="http://www.cancer.gov" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">cancer.gov</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Organization for Rare Disorders (NORD)</b>
|
||
</div><div><b>Phone:</b> 800-999-6673</div><div>
|
||
<a href="https://rarediseases.org/for-patients-and-families/help-access-medications/patient-assistance-programs-2/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RareCare® Patient Assistance Programs</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Diamond Blackfan Anemia Registry (DBAR)</b>
|
||
</div><div>269-01 76th Avenue</div><div>New Hyde Park NY 11040</div><div><b>Phone:</b> 888-884-DBAR</div><div><b>Fax:</b> 718-343-2961</div><div><b>Email:</b> eatsidaf@nshs.edu</div><div>
|
||
<a href="http://dbafoundation.org/families/dba-registry/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">www.dbafoundation.org/families/dba-registry</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Cancer Institute Inherited Bone Marrow Failure Syndromes (IBMFS) Cohort Registry</b>
|
||
</div><div><b>Phone:</b> 800-518-8474</div><div><b>Email:</b> NCI.IBMFS@westat.com</div><div>
|
||
<a href="https://www.marrowfailure.cancer.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">marrowfailure.cancer.gov</a>
|
||
</div></li></ul>
|
||
</div><div id="diamond-b.Molecular_Genetics"><h2 id="_diamond-b_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div id="diamond-b.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Diamond-Blackfan Anemia: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/2623" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>GATA1</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=2623" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Xp11<wbr style="display:inline-block"></wbr>.23</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P15976" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Erythroid transcription factor</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.LOVD.nl/GATA1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">GATA1 @ LOVD</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=GATA1" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">GATA1</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=GATA1[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">GATA1</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6125" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL5</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6125" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">1p22<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P46777" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein uL18</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPL5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL5 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL5" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL5</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL5[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL5</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6135" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL11</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6135" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">1p36<wbr style="display:inline-block"></wbr>.11</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62913" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein uL5</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPL11" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL11 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL11" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL11</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL11[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL11</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6138" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL15</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6138" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">3p24<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P61313" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein eL15</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL15" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL15</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL15[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL15</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6141" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL18</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6141" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">19q13<wbr style="display:inline-block"></wbr>.33</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q07020" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein eL18</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL18" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL18</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL18[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL18</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6154" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL26</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6154" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">17p13<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P61254" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein uL24</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.lovd.nl/RPL26" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL26 @ LOVD</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL26" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL26</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL26[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL26</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<i>RPL27</i>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">17q21.1-q21.2</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P61353" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein eL27</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL27[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL27</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6160" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL31</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6160" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">2q11<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62899" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein eL31</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL31" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL31</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL31[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL31</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/11224" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL35</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=11224" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">9q33<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P42766" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein uL29</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL35" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL35</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL35[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL35</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6165" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPL35A</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6165" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">3q29</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P18077" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Large ribosomal subunit protein eL33</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPL35A" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL35A database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPL35A" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL35A</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPL35A[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPL35A</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6201" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS7</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6201" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">2p25<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62081" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS7</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPS7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS7 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS7" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS7</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS7[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS7</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6204" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS10</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6204" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">6p21<wbr style="display:inline-block"></wbr>.31</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P46783" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS10</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://databases.lovd.nl/shared/genes/RPS10" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS10 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS10" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS10</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS10[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS10</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6210" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS15A</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6210" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">16p12<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62244" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein uS8</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS15A" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS15A</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS15A[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS15A</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6218" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS17</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6218" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">15q25<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P08708" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS17</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPS17" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS17 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS17" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS17</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS17[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS17</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6223" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS19</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6223" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">19q13<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P39019" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS19</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPS19" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS19 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS19" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS19</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS19[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS19</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6229" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS24</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6229" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">10q22<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62847" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS24</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://databases.lovd.nl/shared/genes/RPS24" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS24 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS24" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS24</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS24[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS24</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6231" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS26</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6231" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">12q13<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62854" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS26</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://databases.lovd.nl/shared/genes/RPS26" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS26 database</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS26" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS26</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS26[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS26</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6232" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS27</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6232" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">1q21<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P42677" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS27</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS27" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS27</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS27[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS27</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6234" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS28</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6234" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">19p13<wbr style="display:inline-block"></wbr>.2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62857" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein eS28</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS28" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS28</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS28[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS28</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/6235" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>RPS29</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=6235" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">14q21<wbr style="display:inline-block"></wbr>.3</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P62273" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Small ribosomal subunit protein uS14</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=RPS29" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS29</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=RPS29[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">RPS29</a>
|
||
</td></tr><tr><td headers="hd_b_diamond-b.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/90121" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>TSR2</i>
|
||
</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=90121" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Xp11<wbr style="display:inline-block"></wbr>.22</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/Q969E8" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Pre-rRNA-processing protein TSR2 homolog</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;"></td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TSR2" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TSR2</a>
|
||
</td><td headers="hd_b_diamond-b.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=TSR2[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">TSR2</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="diamond-b.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="diamond-b.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Diamond-Blackfan Anemia (<a href="/omim/105650,180468,180472,300945,300946,305371,602412,603474,603632,603633,603634,603658,603674,603685,603701,603702,603704,604174,604175,604179,606129,606164,607526,610629,612527,612528,612561,612562,612563,613308,613309,614900,615550,615909,618310,618312,618313,618315" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/105650" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">105650</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 1; DBA1</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/180468" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">180468</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L35A; RPL35A</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/180472" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">180472</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S17; RPS17</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/300945" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300945</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">TSR2 RIBOSOME MATURATION FACTOR; TSR2</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/300946" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">300946</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/305371" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">305371</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">GATA-BINDING PROTEIN 1; GATA1</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/602412" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">602412</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S24; RPS24</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603474" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603474</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S19; RPS19</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603632" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603632</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S10; RPS10</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603633" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603633</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S29; RPS29</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603634" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603634</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L5; RPL5</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603658" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603658</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S7; RPS7</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603674" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603674</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S15a; RPS15A</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603685" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603685</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S28; RPS28</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603701" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603701</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S26; RPS26</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603702" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603702</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN S27; RPS27</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/603704" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">603704</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L26; RPL26</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/604174" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">604174</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L15; RPL15</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/604175" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">604175</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L11; RPL11</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/604179" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">604179</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L18; RPL18</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/606129" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">606129</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 2; DBA2</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/606164" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">606164</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/607526" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">607526</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L27; RPL27</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/610629" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">610629</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 3; DBA3</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/612527" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">612527</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 4; DBA4</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/612528" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">612528</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 5; DBA5</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/612561" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">612561</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 6; DBA6</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/612562" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">612562</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 7; DBA7</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/612563" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">612563</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 8; DBA8</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/613308" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">613308</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 9; DBA9</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/613309" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">613309</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 10; DBA10</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/614900" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">614900</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 11; DBA11</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/615550" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">615550</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 12; DBA12</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/615909" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">615909</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 13; DBA13</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/618310" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">618310</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 18; DBA18</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/618312" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">618312</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 19; DBA19</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/618313" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">618313</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DIAMOND-BLACKFAN ANEMIA 20; DBA20</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/618315" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">618315</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">RIBOSOMAL PROTEIN L35; RPL35</td></tr></tbody></table></div></div><div id="diamond-b.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>Ribosomes, consisting of a small 40S subunit and a large 60S subunit, catalyze protein synthesis. Small and large subunits are composed of four RNA species and approximately 80 structurally distinct ribosomal proteins (RPs). The proteins encoded by <i>RPS19</i>, <i>RPS24</i>, <i>RPS17</i>, <i>RPS15</i>, <i>RPS7</i>, <i>RPS27A</i>, <i>RPS10</i>, and <i>RPS26</i> belong to the small ribosomal subunit, whereas those encoded by <i>RPL5</i>, <i>RPL11</i>, <i>RPL26</i>, <i>RPL35A</i>, and <i>RPL36</i> are components of the large ribosomal subunit.</p><p>RPS19 protein has been demonstrated to play an important role in 18S rRNA maturation in yeast and in human cells [<a class="bk_pop" href="#diamond-b.REF.l_gersilvestre.2005.38177">Léger-Silvestre et al 2005</a>, <a class="bk_pop" href="#diamond-b.REF.choesmel.2007.1275">Choesmel et al 2007</a>, <a class="bk_pop" href="#diamond-b.REF.flygare.2007.980">Flygare et al 2007</a>, <a class="bk_pop" href="#diamond-b.REF.idol.2007.35">Idol et al 2007</a>]. Similarly, alterations of pre-RNA processing of small or large RP subunit synthesis were demonstrated in human cells with RPS24 and RPS7 deficiency and with RPL35A, RPL5, RPL11, and RPL26 deficiency, respectively, further indicating that DBA is a disorder of ribosomes [<a class="bk_pop" href="#diamond-b.REF.choesmel.2008.1253">Choesmel et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.farrar.2008.1582">Farrar et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.gazda.2008.769">Gazda et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.gazda.2012.1037">Gazda et al 2012</a>]. Deficiency of RPS19 and RPL35A was shown to cause increased apoptosis in hematopoietic cell lines and in bone marrow cells [<a class="bk_pop" href="#diamond-b.REF.farrar.2008.1582">Farrar et al 2008</a>, <a class="bk_pop" href="#diamond-b.REF.miyake.2008.323">Miyake et al 2008</a>], and imbalance of the p53 family proteins has been suggested as a mechanism of abnormal embryogenesis and anemia in zebrafish on perturbation of <i>RPS19</i> expression [<a class="bk_pop" href="#diamond-b.REF.danilova.2008.5228">Danilova et al 2008</a>].</p><p><b>Mechanism of disease causation.</b> Rarely, <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a> variants may act in a <a class="def" href="/books/n/gene/glossary/def-item/dominant-negative/">dominant-negative</a> manner, but <a class="def" href="/books/n/gene/glossary/def-item/haploinsufficiency/">haploinsufficiency</a> of a ribosomal protein is the most common mechanism. Evidence suggests that ribosomal stress due to ribosome deficiency leads to stabilization of p53 and consequent p53-mediated cell cycle arrest or apoptosis. Furthermore <i>GATA1</i>, a critical erythroid <a class="def" href="/books/n/gene/glossary/def-item/transcription-factor/">transcription factor</a>, has a complex 5' UTR and is poorly translated when ribosomal proteins are deficient. This can explain why <i>GATA1</i> pathogenic variants result in a DBA <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> [<a class="bk_pop" href="#diamond-b.REF.ludwig.2014.748">Ludwig et al 2014</a>].</p><p><b>Gene-specific laboratory technical considerations</b>. Revertant <a class="def" href="/books/n/gene/glossary/def-item/mosaicism/">mosaicism</a> (e.g., acquired <a class="def" href="/books/n/gene/glossary/def-item/uniparental-disomy/">uniparental disomy</a> ablating a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a>
|
||
<i>RPS19</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>) has rarely been observed to account for spontaneous remission in individuals with DBA [<a class="bk_pop" href="#diamond-b.REF.venugopal.2017.e506">Venugopal et al 2017</a>, <a class="bk_pop" href="#diamond-b.REF.garelli.2019.994">Garelli et al 2019</a>].</p><div id="diamond-b.T.diamondblackfan_anemia_genes" class="table"><h3><span class="label">Table 5. </span></h3><div class="caption"><p>Diamond-Blackfan Anemia: Gene-Specific Laboratory Considerations</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK7047/table/diamond-b.T.diamondblackfan_anemia_genes/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__diamond-b.T.diamondblackfan_anemia_genes_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Special Consideration</th></tr></thead><tbody><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL5</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]; long indels can be missed by <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL11</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPL35A</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS10</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Long indels can be missed by <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS17</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS19</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS24</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Long indels can be missed by <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a> [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</td></tr><tr><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RPS26</i>
|
||
</td><td headers="hd_h_diamond-b.T.diamondblackfan_anemia_genes_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Large deletions in ~20% [<a class="bk_pop" href="#diamond-b.REF.quarello.2012.1813">Quarello et al 2012</a>]; 6 extended or cryptic <a class="def" href="/books/n/gene/glossary/def-item/splicing/">splicing</a> variants & a 3’ UTR variant have been reported [<a class="bk_pop" href="#diamond-b.REF.ulirsch.2018.930">Ulirsch et al 2018</a>].</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="diamond-b.TF.5.1"><p class="no_margin">Genes from <a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobdiamondbTmoleculargenetictestingus">Table 1</a> in alphabetic order</p></div></dd></dl></div></div></div></div></div><div id="diamond-b.Chapter_Notes"><h2 id="_diamond-b_Chapter_Notes_">Chapter Notes</h2><div id="diamond-b.Acknowledgments"><h3>Acknowledgments</h3><p>The author acknowledges the generous support of the Diamond Blackfan Anemia Foundation.</p></div><div id="diamond-b.Author_History"><h3>Author History</h3><p>Catherine Clinton, MS, CGC; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (2009-2021)<br />Hanna T Gazda, MD, PhD; Boston Children's Hospital (2009-2021)<br />Colin Sieff, MBBCh, FRCPath (2021-present)</p></div><div id="diamond-b.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>23 March 2023 (sw) Revision: information regarding <a href="/books/n/gene/gata1/"><i>GATA1</i>-related cytopenia</a> added to <a href="/books/NBK7047/table/diamond-b.T.molecular_genetic_testing_us/?report=objectonly" target="object" rid-ob="figobdiamondbTmoleculargenetictestingus">Table 1</a></div></li><li class="half_rhythm"><div>17 June 2021 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>7 March 2019 (aa) Revision: <i>RPL18</i>, <i>RPL35</i>, and <i>RPS15A</i> added</div></li><li class="half_rhythm"><div>7 April 2016 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>16 January 2014 (cd) Revision: mutation of <i>RPL15</i> causative of DBA12</div></li><li class="half_rhythm"><div>25 July 2013 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>27 January 2011 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>24 November 2009 (cd) Revision: <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> for <i>RPS19</i> available clinically</div></li><li class="half_rhythm"><div>13 October 2009 (cd) Revision: <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> and <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> available for <i>RPL5</i>, <i>RPL11</i>, <i>RPL35A</i>, <i>RPS7</i>, <i>RPS17</i> mutations; prenatal testing available for <i>RPS24</i> mutations</div></li><li class="half_rhythm"><div>25 June 2009 (et) Review posted live</div></li><li class="half_rhythm"><div>17 February 2009 (hg) Original submission</div></li></ul></div></div><div id="diamond-b.References"><h2 id="_diamond-b_References_">References</h2><div id="diamond-b.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.alter.2018.30">Alter BP, Giri N, Savage SA, Rosenberg PS. 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Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity. <span><span class="ref-journal">Br J Haematol. </span>2004;<span class="ref-vol">125</span>:243–52.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15059149" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15059149</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.parekh.2005.54">Parekh S, Perez A, Yang XY, Billett H. Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia. <span><span class="ref-journal">Am J Hematol. </span>2005;<span class="ref-vol">79</span>:54–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15849759" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15849759</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.porter.2008.168">Porter J, Galanello R, Saglio G, Neufeld EJ, Vichinsky E, Cappellini MD, Olivieri N, Piga A, Cunningham MJ, Soulières D, Gattermann N, Tchernia G, Maertens J, Giardina P, Kwiatkowski J, Quarta G, Jeng M, Forni GL, Stadler M, Cario H, Debusscher L, Della Porta M, Cazzola M, Greenberg P, Alimena G, Rabault B, Gathmann I, Ford JM, Alberti D, Rose C. Relative response of patients with myelodysplastic syndromes and other transfusion-dependent anaemias to deferasirox (ICL670): a 1-yr prospective study. <span><span class="ref-journal">Eur J Haematol. </span>2008;<span class="ref-vol">80</span>:168–76.</span> [<a href="/pmc/articles/PMC2268958/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2268958</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18028431" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18028431</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.quarello.2012.1813">Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U. High frequency of ribosomal protein gene deletions in Italian Diamond Blackfan anemia patients detected by Multiplex Ligation-dependent Probe Amplification (MLPA) assay. <span><span class="ref-journal">Haematologica. </span>2012;<span class="ref-vol">97</span>:1813–7.</span> [<a href="/pmc/articles/PMC3590087/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3590087</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22689679" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22689679</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.quarello.2010.206">Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. <span><span class="ref-journal">Haematologica. </span>2010;<span class="ref-vol">95</span>:206–13.</span> [<a href="/pmc/articles/PMC2817022/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2817022</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19773262" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19773262</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.ramenghi.2000.417">Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I. Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. <span><span class="ref-journal">Blood Cells Mol Dis. </span>2000;<span class="ref-vol">26</span>:417–22.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11112378" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11112378</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.richards.2015.405">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL., ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. <span><span class="ref-journal">Genet Med. </span>2015;<span class="ref-vol">17</span>:405–24.</span> [<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.roy.2005.600">Roy V, Perez WS, Eapen M, Marsh JC, Pasquini M, Pasquini R, Mustafa MM, Bredeson CN. Bone marrow transplantation for diamond-blackfan anemia. <span><span class="ref-journal">Biol Blood Marrow Transplant. </span>2005;<span class="ref-vol">11</span>:600–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16041310" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16041310</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.saladi.2004.187">Saladi SM, Chattopadhyay T, Adiotomre PN. Nomimmune hydrops fetalis due to Diamond-Blackfan anemia. <span><span class="ref-journal">Indian Pediatr. </span>2004;<span class="ref-vol">41</span>:187–8.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15004307" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15004307</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.stenson.2020.1197">Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. <span><span class="ref-journal">Hum Genet. </span>2020;<span class="ref-vol">139</span>:1197–207.</span> [<a href="/pmc/articles/PMC7497289/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7497289</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32596782" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32596782</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.taher.2020.e446">Taher AT, Iolascon A, Matar CF, Bou-Fakhredin R, de Franceschi L, Cappellini MD, Barcellini W, Russo R, Andolfo I, Tyan P, Gulbis B, Aydinok Y, Anagnou NP, Bencaiova GA, Tamary H, Martinez PA, Forni G, Vindigni R. Recommendations for pregnancy in rare inherited anemias. <span><span class="ref-journal">Hemasphere. </span>2020;<span class="ref-vol">4</span>:e446. </span> [<a href="/pmc/articles/PMC7437563/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7437563</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32885142" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32885142</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.ulirsch.2018.930">Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT. The genetic landscape of Diamond-Blackfan anemia. <span><span class="ref-journal">Am J Hum Genet. </span>2018;<span class="ref-vol">103</span>:930–47.</span> [<a href="/pmc/articles/PMC6288280/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6288280</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30503522" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30503522</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.venugopal.2017.e506">Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS. Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient. <span><span class="ref-journal">Haematologica. </span>2017;<span class="ref-vol">102</span>:e506–e509.</span> [<a href="/pmc/articles/PMC5709125/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5709125</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28971907" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28971907</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.vlachos.2008.859">Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. <span><span class="ref-journal">Br J Haematol. </span>2008;<span class="ref-vol">142</span>:859–76.</span> [<a href="/pmc/articles/PMC2654478/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2654478</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18671700" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18671700</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.vlachos.2001.377">Vlachos A, Klein GW, Lipton JM. The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. <span><span class="ref-journal">J Pediatr Hematol Oncol. </span>2001;<span class="ref-vol">23</span>:377–82.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11563775" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11563775</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.vlachos.2012.3815">Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry. <span><span class="ref-journal">Blood. </span>2012;2012;<span class="ref-vol">119</span>:3815–9.</span> [<a href="/pmc/articles/PMC3335385/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3335385</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22362038" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22362038</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="diamond-b.REF.willig.1999.4294">Willig TN, Draptchinskaia N, Dianzani I, Ball S, Niemeyer C, Ramenghi U, Orfali K, Gustavsson P, Garelli E, Brusco A, Tiemann C, Perignon JL, Bouchier C, Cicchiello L, Dahl N, Mohandas N, Tchernia G. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. <span><span class="ref-journal">Blood. </span>1999;<span class="ref-vol">94</span>:4294–306.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/10590074" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 10590074</span></a>]</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK7047/?report=reader">PubReader</a></li><li><a href="/books/NBK7047/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK7047" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK7047" style="display:none" title="Cite this Page"><div class="bk_tt">Sieff C. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. 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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6218[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS17</a>
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<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6141[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPL18</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6229[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS24</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6210[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS15A</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6204[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS10</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6154[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPL26</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6201[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS7</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=11224[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPL35</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6125[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPL5</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6235[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS29</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6138[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPL15</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6231[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS26</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=90121[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">TSR2</a>
|
||
</li><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/gtr/tests/?term=6234[geneid]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri&link_id=tests_in_gtr_by_gene">RPS28</a>
|
||
</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Variations in ClinVar</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="document-links" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li>
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=NBK7047+AND+genereviews[submitter]" ref="pagearea=document-links&targetsite=external&targetcat=link&targettype=uri">Variations from this GeneReview in ClinVar</a>
|
||
</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=medgen&DbFrom=books&Cmd=Link&LinkName=books_medgen&IdsFromResult=1533328" ref="log$=recordlinks">MedGen</a><div class="brieflinkpop offscreen_noflow">Related information in MedGen</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=omim&DbFrom=books&Cmd=Link&LinkName=books_omim&IdsFromResult=1533328" ref="log$=recordlinks">OMIM</a><div class="brieflinkpop offscreen_noflow">Related OMIM records</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=1533328" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=1533328" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=1533328" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301575" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Fanconi Anemia.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Fanconi Anemia.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Mehta PA, Ebens C. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301599" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Beta-Thalassemia.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Beta-Thalassemia.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Langer AL. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301538" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> GATA1-Related Cytopenia.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> GATA1-Related Cytopenia.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Takasaki K, Kacena MA, Raskind WH, Weiss MJ, Chou ST. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301722" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Shwachman-Diamond Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Shwachman-Diamond Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Nelson A, Myers K. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301668" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Konkle BA, Nakaya Fletcher S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=20301769" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=20301769" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2ab3c84f3725e59330f11">Diamond-Blackfan Anemia - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Diamond-Blackfan Anemia - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2ab3af4a390645e339bea">Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2ab38a68b6b5afc7bd94d">Deoxyguanosine Kinase Deficiency - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Deoxyguanosine Kinase Deficiency - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d2ab3584f3725e5932e6a7">Dent Disease - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Dent Disease - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d2ab33f4a390645e33698c">Deafness-Dystonia-Optic Neuronopathy Syndrome - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Deafness-Dystonia-Optic Neuronopathy Syndrome - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a 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