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<meta name="keywords" content="C0002896, anaemia sideroblastic, anemia sideroblastic, anemia, hypochromic with iron loading, anemia, sideroblastic, anemias, sideroblastic, disease or syndrome, hypersideremic anaemia, hypersideremic anemia, primary sideroblastic anemia, sideroachrestic anemia, sideroblastic anaemia, sideroblastic anemia, sideroblastic anemias, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=8067
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ConceptID=C0002896
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Sideroblastic anemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8067</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002896</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Anemia, Sideroblastic; Anemias, Sideroblastic; Sideroblastic Anemia; Sideroblastic Anemias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Sideroblastic anemia (41841004); Primary sideroblastic anemia (41841004); Sideroachrestic anemia (41841004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_376232"><div><strong>X-linked dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1847879</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376232">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_376232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001924">HP:0001924</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0015194" target="_blank">MONDO:0015194</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1047">ORPHA1047</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002896[DISCUI]&test_type=Clinical" ref="ncbi_uid=8067">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=8067" ref="ncbi_uid=8067">V</a></span></span><span class="TLline">Sideroblastic anemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="matched_ds">Sideroblastic anemia</span><ul><li><span class="TLline"><a href="/medgen/865038" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome with ring sideroblasts">Myelodysplastic syndrome with ring sideroblasts</a></span></li><li><span class="TLline"><a href="/medgen/75771" ref="tree=MeSH" title="MedGen record for Pyridoxine-responsive sideroblastic anemia">Pyridoxine-responsive sideroblastic anemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=999&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Sideroblastic anemia</span> in Orphanet.</div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_9618"><div><strong>Kearns-Sayre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9618</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/9618">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_83338"><div><strong>Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83338</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83338">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_87459"><div><strong>Pearson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87459</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0342784</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Single large-scale mitochondrial DNA deletion syndromes (SLSMDSs) comprise overlapping clinical phenotypes including Kearns-Sayre syndrome (KSS), KSS spectrum, Pearson syndrome (PS), chronic progressive external ophthalmoplegia (CPEO), and CPEO-plus. KSS is a progressive multisystem disorder with onset before age 20 years characterized by pigmentary retinopathy, CPEO, and cardiac conduction abnormality. Additional features can include cerebellar ataxia, tremor, intellectual disability or cognitive decline, dementia, sensorineural hearing loss, oropharyngeal and esophageal dysfunction, exercise intolerance, muscle weakness, and endocrinopathies. Brain imaging typically shows bilateral lesions in the globus pallidus and white matter. KSS spectrum includes individuals with KSS in addition to individuals with ptosis and/or ophthalmoparesis and at least one of the following: retinopathy, ataxia, cardiac conduction defects, hearing loss, growth deficiency, cognitive impairment, tremor, or cardiomyopathy. Compared to CPEO-plus, individuals with KSS spectrum have more severe muscle involvement (e.g., weakness, atrophy) and overall have a worse prognosis. PS is characterized by pancytopenia (typically transfusion-dependent sideroblastic anemia with variable cell line involvement), exocrine pancreatic dysfunction, poor weight gain, and lactic acidosis. PS manifestations also include renal tubular acidosis, short stature, and elevated liver enzymes. PS may be fatal in infancy due to neutropenia-related infection or refractory metabolic acidosis. CPEO is characterized by ptosis, ophthalmoplegia, oropharyngeal weakness, variable proximal limb weakness, and/or exercise intolerance. CPEO-plus includes CPEO with additional multisystemic involvement including neuropathy, diabetes mellitus, migraines, hypothyroidism, neuropsychiatric manifestations, and optic neuropathy. Rarely, an SLSMDS can manifest as Leigh syndrome, which is characterized as developmental delays, neurodevelopmental regression, lactic acidosis, and bilateral symmetric basal ganglia, brain stem, and/or midbrain lesions on MRI.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87459">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_325511"><div><strong>Wolfram syndrome, mitochondrial form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325511</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1838782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/325511">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_335078"><div><strong>X-linked sideroblastic anemia with ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335078</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia (SCAX6) is an X-linked recessive disorder characterized by delayed motor development apparent in infancy with delayed walking (often by several years) due to ataxia and poor coordination. Additional features may include dysmetria, dysarthria, spasticity of the lower limbs, hyperreflexia, dysdiadochokinesis, strabismus, and nystagmus. The disorder is slowly progressive, and patients often lose ambulation. Brain imaging usually shows cerebellar atrophy. Most affected individuals have mild hypochromic, microcytic sideroblastic anemia, which may be asymptomatic. Laboratory studies show increased free erythrocyte protoporphyrin (FEP) and ringed sideroblasts on bone marrow biopsy. Female carriers do not have neurologic abnormalities, but may have subtle findings on peripheral blood smear (Pagon et al., 1985; D'Hooghe et al., 2012). For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/335078">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342573"><div><strong>Hereditary myopathy with lactic acidosis due to ISCU deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342573</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850718</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype (summary by Sanaker et al., 2010).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342573">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462152"><div><strong>Myopathy, lactic acidosis, and sideroblastic anemia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462152</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3150802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013). For a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462152">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815250"><div><strong>Severe congenital hypochromic anemia with ringed sideroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815250</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3808920</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815250">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_863609"><div><strong>Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863609</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/863609">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_899109"><div><strong>Sideroblastic anemia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899109</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/899109">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902781"><div><strong>Autosomal dominant sideroblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902781</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902781">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_934728"><div><strong>Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934728</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4310761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/934728">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1638704"><div><strong>X-linked sideroblastic anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1638704</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name.\n\nThe signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1638704">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1641635"><div><strong>Wolfram syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641635</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1641635">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1634824"><div><strong>Myopathy, lactic acidosis, and sideroblastic anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634824</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow (Bykhovskaya et al., 2004). Genetic Heterogeneity of Myopathy, Lactic Acidosis, and Sideroblastic Anemia MLASA2 (613561) is caused by mutation in the YARS2 gene (610957) on chromosome 12p11. MLASA3 (500011) is caused by heteroplasmic mutation in the mitochondrially-encoded MTATP6 gene (516060).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1634824">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant sideroblastic anemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342573" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary myopathy with lactic acidosis due to ISCU deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9618" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kearns-Sayre syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (15)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83338" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634824" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, lactic acidosis, and sideroblastic anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy, lactic acidosis, and sideroblastic anemia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pearson syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815250" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe congenital hypochromic anemia with ringed sideroblasts</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sideroblastic anemia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome, mitochondrial form</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1638704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked sideroblastic anemia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked sideroblastic anemia with ataxia</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37043658">Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Dijck R,
|
||
Goncalves Silva AM,
|
||
Rijneveld AW</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2023 Apr 13;388(15):1435-1436.
|
||
doi: 10.1056/NEJMc2216213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37043658" target="_blank">37043658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34298585">SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heeney MM,
|
||
Berhe S,
|
||
Campagna DR,
|
||
Oved JH,
|
||
Kurre P,
|
||
Shaw PJ,
|
||
Teo J,
|
||
Shanap MA,
|
||
Hassab HM,
|
||
Glader BE,
|
||
Shah S,
|
||
Yoshimi A,
|
||
Ameri A,
|
||
Antin JH,
|
||
Boudreaux J,
|
||
Briones M,
|
||
Dickerson KE,
|
||
Fernandez CV,
|
||
Farah R,
|
||
Hasle H,
|
||
Keel SB,
|
||
Olson TS,
|
||
Powers JM,
|
||
Rose MJ,
|
||
Shimamura A,
|
||
Bottomley SS,
|
||
Fleming MD</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 Nov;42(11):1367-1383.
|
||
Epub 2021 Aug 5
|
||
doi: 10.1002/humu.24267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34298585" target="_blank">34298585</a><a href="/pmc/articles/PMC8511274" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22sideroblastic%20anemia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (21)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37390396">Anemia: Microcytic Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampon K</span><br />
|
||
<span class="medgenPMjournal">FP Essent</span>
|
||
2023 Jul;530:12-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37390396" target="_blank">37390396</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Nov;128(3):164-177.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1016/j.ymgme.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30401706">The molecular genetics of sideroblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ducamp S,
|
||
Fleming MD</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2019 Jan 3;133(1):59-69.
|
||
Epub 2018 Nov 6
|
||
doi: 10.1182/blood-2018-08-815951.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30401706" target="_blank">30401706</a><a href="/pmc/articles/PMC6318428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (238)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33091139">Heavy metal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dewarrat N,
|
||
Blum S</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Oct 22;136(17):1993.
|
||
doi: 10.1182/blood.2020007779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33091139" target="_blank">33091139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17197454">Microcytic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Richardson M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2007 Jan;28(1):5-14.
|
||
doi: 10.1542/pir.28-1-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17197454" target="_blank">17197454</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2010487">Sideroblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bottomley SS</span><br />
|
||
<span class="medgenPMjournal">Hosp Pract (Off Ed)</span>
|
||
1991 Apr;26 Suppl 3:37-40.
|
||
doi: 10.1080/21548331.1991.11704283.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2010487" target="_blank">2010487</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (409)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33091139">Heavy metal.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dewarrat N,
|
||
Blum S</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2020 Oct 22;136(17):1993.
|
||
doi: 10.1182/blood.2020007779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33091139" target="_blank">33091139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1578956">Microcytic anemia. Differential diagnosis and management of iron deficiency anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massey AC</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
1992 May;76(3):549-66.
|
||
doi: 10.1016/s0025-7125(16)30339-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1578956" target="_blank">1578956</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/320843">Sideroblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kushner JP,
|
||
Cartwright GE</span><br />
|
||
<span class="medgenPMjournal">Adv Intern Med</span>
|
||
1977;22:229-49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/320843" target="_blank">320843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (329)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33428785">Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patnaik MM,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Am J Hematol</span>
|
||
2021 Mar 1;96(3):379-394.
|
||
Epub 2021 Jan 28
|
||
doi: 10.1002/ajh.26090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33428785" target="_blank">33428785</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29337599">Pearson syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farruggia P,
|
||
Di Marco F,
|
||
Dufour C</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Hematol</span>
|
||
2018 Mar;11(3):239-246.
|
||
Epub 2018 Jan 23
|
||
doi: 10.1080/17474086.2018.1426454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29337599" target="_blank">29337599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27391606">Recent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malcovati L,
|
||
Cazzola M</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2016 Sep;174(6):847-58.
|
||
Epub 2016 Jul 8
|
||
doi: 10.1111/bjh.14215.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27391606" target="_blank">27391606</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17313156">Risk-based management of myelodysplastic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steensma DP,
|
||
Tefferi A</span><br />
|
||
<span class="medgenPMjournal">Oncology (Williston Park)</span>
|
||
2007 Jan;21(1):43-54; discussion 57-8, 62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17313156" target="_blank">17313156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (225)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38635773">Mitochondrial tRNA pseudouridylation governs erythropoiesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang B,
|
||
Shi D,
|
||
Yang S,
|
||
Lian Y,
|
||
Li H,
|
||
Cao M,
|
||
He Y,
|
||
Zhang L,
|
||
Qiu C,
|
||
Liu T,
|
||
Wen W,
|
||
Ma Y,
|
||
Shi L,
|
||
Cheng T,
|
||
Shi L,
|
||
Yuan W,
|
||
Chu Y,
|
||
Shi J</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2024 Aug 8;144(6):657-671.
|
||
doi: 10.1182/blood.2023022004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38635773" target="_blank">38635773</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36028755">Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ochi T,
|
||
Fujiwara T,
|
||
Ono K,
|
||
Suzuki C,
|
||
Nikaido M,
|
||
Inoue D,
|
||
Kato H,
|
||
Onodera K,
|
||
Ichikawa S,
|
||
Fukuhara N,
|
||
Onishi Y,
|
||
Yokoyama H,
|
||
Nakamura Y,
|
||
Harigae H</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Aug 26;12(1):14562.
|
||
doi: 10.1038/s41598-022-18921-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36028755" target="_blank">36028755</a><a href="/pmc/articles/PMC9418223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31914241">Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenaux P,
|
||
Platzbecker U,
|
||
Mufti GJ,
|
||
Garcia-Manero G,
|
||
Buckstein R,
|
||
Santini V,
|
||
Díez-Campelo M,
|
||
Finelli C,
|
||
Cazzola M,
|
||
Ilhan O,
|
||
Sekeres MA,
|
||
Falantes JF,
|
||
Arrizabalaga B,
|
||
Salvi F,
|
||
Giai V,
|
||
Vyas P,
|
||
Bowen D,
|
||
Selleslag D,
|
||
DeZern AE,
|
||
Jurcic JG,
|
||
Germing U,
|
||
Götze KS,
|
||
Quesnel B,
|
||
Beyne-Rauzy O,
|
||
Cluzeau T,
|
||
Voso MT,
|
||
Mazure D,
|
||
Vellenga E,
|
||
Greenberg PL,
|
||
Hellström-Lindberg E,
|
||
Zeidan AM,
|
||
Adès L,
|
||
Verma A,
|
||
Savona MR,
|
||
Laadem A,
|
||
Benzohra A,
|
||
Zhang J,
|
||
Rampersad A,
|
||
Dunshee DR,
|
||
Linde PG,
|
||
Sherman ML,
|
||
Komrokji RS,
|
||
List AF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Jan 9;382(2):140-151.
|
||
doi: 10.1056/NEJMoa1908892.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31914241" target="_blank">31914241</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31326287">Heme biosynthesis and the porphyrias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Phillips JD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Nov;128(3):164-177.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1016/j.ymgme.2019.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31326287" target="_blank">31326287</a><a href="/pmc/articles/PMC7252266" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27026139">Mitochondrial iron overload: causes and consequences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rouault TA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Genet Dev</span>
|
||
2016 Jun;38:31-37.
|
||
Epub 2016 Mar 25
|
||
doi: 10.1016/j.gde.2016.02.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27026139" target="_blank">27026139</a><a href="/pmc/articles/PMC5035716" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (213)</a></div></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35984545">Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maccora I,
|
||
Ramanan AV,
|
||
Wiseman D,
|
||
Marrani E,
|
||
Mastrolia MV,
|
||
Simonini G</span><br />
|
||
<span class="medgenPMjournal">J Clin Immunol</span>
|
||
2023 Jan;43(1):1-30.
|
||
Epub 2022 Aug 19
|
||
doi: 10.1007/s10875-022-01343-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35984545" target="_blank">35984545</a><a href="/pmc/articles/PMC9840570" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18351340">Erythropoiesis-stimulating agents in the treatment of anemia in myelodysplastic syndromes: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moyo V,
|
||
Lefebvre P,
|
||
Duh MS,
|
||
Yektashenas B,
|
||
Mundle S</span><br />
|
||
<span class="medgenPMjournal">Ann Hematol</span>
|
||
2008 Jul;87(7):527-36.
|
||
Epub 2008 Mar 20
|
||
doi: 10.1007/s00277-008-0450-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18351340" target="_blank">18351340</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Sideroblastic%20anemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0002896%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
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<li><a href="/gtr/tests?term=C0002896%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
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