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<meta name="keywords" content="C0037889, congenital spherocytic hemolytic anaemia, congenital spherocytic hemolytic anemia, congenital spherocytosis, disease or syndrome, familial acholuric jaundice, familial spherocytosis, hereditary spherocytoses, hereditary spherocytosis, hs - hereditary spherocytosis, minkowski chauffard syndrome, minkowski-chauffard disease, minkowsky-chauffard syndrome, sph, spherocytic anaemia, spherocytic anemia, spherocytoses, hereditary, spherocytosis, hereditary, 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="Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. Genetic Heterogeneity of Hereditary Spherocytosis Also see SPH2 (616649), caused by mutation in the SPTB gene (182870) on chromosome 14q23; SPH3 (270970), caused by mutation in the SPTA1 gene (182860) on chromosome 1q21; SPH4 (612653), caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21; and SPH5 (612690), caused by mutation in the EPB42 gene (177070) on chromosome 15q15." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=52450
|
||
ConceptID=C0037889
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hereditary spherocytosis<span class="h1sub">(SPH)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52450</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."><span class="highlight" style="background-color:">C0037889</span></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>Congenital spherocytic hemolytic anemia; Congenital spherocytosis; SPH</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>HS - Hereditary spherocytosis (55995005); Hereditary spherocytosis (55995005); Familial spherocytosis (55995005); Minkowsky-Chauffard syndrome (55995005); Congenital spherocytosis (55995005); Familial acholuric jaundice (55995005); Congenital spherocytic hemolytic anemia (55995005)</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="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></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6710">SPTB</a>, <a target="_blank" href="/gene/6708">SPTA1</a>, <a target="_blank" href="/gene/6521">SLC4A1</a>, <a target="_blank" href="/gene/2038">EPB42</a>, <a target="_blank" href="/gene/286">ANK1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019350" target="_blank">MONDO:0019350</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=822">ORPHA822</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>
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<div class="portlet mgSection" id="ID_100">
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||
<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">Hereditary spherocytosis refers to a group of heterogeneous disorders that are characterized by the presence of spherical-shaped erythrocytes (spherocytes) on the peripheral blood smear. The disorders are characterized clinically by anemia, jaundice, and splenomegaly, with variable severity. Common complications include cholelithiasis, hemolytic episodes, and aplastic crises (review by Perrotta et al., 2008). Elgsaeter et al. (1986) gave an extensive review of the molecular basis of erythrocyte shape with a discussion of the role of spectrin and other proteins such as ankyrin, actin (102630), band 4.1 (130500), and band 3 (109270), all of which is relevant to the understanding of spherocytosis and elliptocytosis (see 611904). See Delaunay (2007) for a discussion of the molecular basis of hereditary red cell membrane disorders. Genetic Heterogeneity of Hereditary Spherocytosis Also see SPH2 (616649), caused by mutation in the SPTB gene (182870) on chromosome 14q23; SPH3 (270970), caused by mutation in the SPTA1 gene (182860) on chromosome 1q21; SPH4 (612653), caused by mutation in the SLC4A1 gene (109270) on chromosome 17q21; and SPH5 (612690), caused by mutation in the EPB42 gene (177070) on chromosome 15q15. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.<br /><br />There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form.<br /><br />People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hereditary-spherocytosis">https://medlineplus.gov/genetics/condition/hereditary-spherocytosis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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||
<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></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=C0037889[DISCUI]&test_type=Clinical" ref="ncbi_uid=52450">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=52450" ref="ncbi_uid=52450">V</a></span></span><span class="TLline">Hereditary spherocytosis</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674218[DISCUI]&test_type=Clinical" ref="ncbi_uid=382302">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382302" target="_blank" href="/omim/182900">O</a></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=382302" ref="ncbi_uid=382302">V</a></span></span><span class="TLline"><a href="/medgen/382302" ref="tree=GTR&ncbi_uid=382302&link_uid=382302" title="View MedGen record for 'Hereditary spherocytosis type 1'">Hereditary spherocytosis type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2674219[DISCUI]&test_type=Clinical" ref="ncbi_uid=436112">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436112" target="_blank" href="/omim/616649">O</a></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=436112" ref="ncbi_uid=436112">V</a></span></span><span class="TLline"><a href="/medgen/436112" ref="tree=GTR&ncbi_uid=436112&link_uid=436112" title="View MedGen record for 'Hereditary spherocytosis type 2'">Hereditary spherocytosis type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678338[DISCUI]&test_type=Clinical" ref="ncbi_uid=394798">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394798" target="_blank" href="/omim/270970">O</a></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=394798" ref="ncbi_uid=394798">V</a></span></span><span class="TLline"><a href="/medgen/394798" ref="tree=GTR&ncbi_uid=394798&link_uid=394798" title="View MedGen record for 'Hereditary spherocytosis type 3'">Hereditary spherocytosis type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675212[DISCUI]&test_type=Clinical" ref="ncbi_uid=436375">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436375" target="_blank" href="/omim/612653">O</a></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=436375" ref="ncbi_uid=436375">V</a></span></span><span class="TLline"><a href="/medgen/436375" ref="tree=GTR&ncbi_uid=436375&link_uid=436375" title="View MedGen record for 'Hereditary spherocytosis type 4'">Hereditary spherocytosis type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675192[DISCUI]&test_type=Clinical" ref="ncbi_uid=436371">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436371" target="_blank" href="/omim/612690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK190102/" ref="ncbi_uid=436371">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436371" ref="ncbi_uid=436371">V</a></span></span><span class="TLline"><a href="/medgen/436371" ref="tree=GTR&ncbi_uid=436371&link_uid=436371" title="View MedGen record for 'Hereditary spherocytosis type 5'">Hereditary spherocytosis type 5</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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="TLline"><a href="/medgen/102361" ref="tree=MeSH" title="MedGen record for Congenital anemia">Congenital anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/543748" ref="tree=MeSH" title="MedGen record for Anemia due to membrane defect">Anemia due to membrane defect</a></span><ul><li><span class="matched_ds">Hereditary spherocytosis</span><ul><li><span class="TLline"><a href="/medgen/382302" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis type 1">Hereditary spherocytosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/436112" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis type 2">Hereditary spherocytosis type 2</a></span></li><li><span class="TLline"><a href="/medgen/394798" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis type 3">Hereditary spherocytosis type 3</a></span></li><li><span class="TLline"><a href="/medgen/436375" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis type 4">Hereditary spherocytosis type 4</a></span></li><li><span class="TLline"><a href="/medgen/436371" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis type 5">Hereditary spherocytosis type 5</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/32436265">Genotype-phenotype correlation in children with hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tole S,
|
||
Dhir P,
|
||
Pugi J,
|
||
Drury LJ,
|
||
Butchart S,
|
||
Fantauzzi M,
|
||
Langer JC,
|
||
Baker JM,
|
||
Blanchette VS,
|
||
Kirby-Allen M,
|
||
Carcao MD</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2020 Nov;191(3):486-496.
|
||
Epub 2020 May 20
|
||
doi: 10.1111/bjh.16750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436265" target="_blank">32436265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28463670">Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manciu S,
|
||
Matei E,
|
||
Trandafir B</span><br />
|
||
<span class="medgenPMjournal">Chirurgia (Bucur)</span>
|
||
2017 Mar-Apr;112(2):110-116.
|
||
doi: 10.21614/chirurgia.112.2.110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28463670" target="_blank">28463670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22055020">Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bolton-Maggs PH,
|
||
Langer JC,
|
||
Iolascon A,
|
||
Tittensor P,
|
||
King MJ;
|
||
General Haematology Task Force of the British Committee for Standards in Haematology</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2012 Jan;156(1):37-49.
|
||
Epub 2011 Nov 5
|
||
doi: 10.1111/j.1365-2141.2011.08921.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22055020" target="_blank">22055020</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20spherocytosis%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 (39)</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/36074689">Fetal-maternal incompatibility in the Rh system. Rh isoimmunization associated with hereditary spherocytosis: case presentation and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neamţu SD,
|
||
Novac MB,
|
||
Neamţu AV,
|
||
Stanca ID,
|
||
Boldeanu MV,
|
||
Gluhovschi A,
|
||
Stanca L,
|
||
Dijmărescu AL,
|
||
Manolea MM,
|
||
Trăistaru MR,
|
||
Mateescu GO,
|
||
Siminel MA</span><br />
|
||
<span class="medgenPMjournal">Rom J Morphol Embryol</span>
|
||
2022 Jan-Mar;63(1):229-235.
|
||
doi: 10.47162/RJME.63.1.26.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36074689" target="_blank">36074689</a><a href="/pmc/articles/PMC9593129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32436265">Genotype-phenotype correlation in children with hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tole S,
|
||
Dhir P,
|
||
Pugi J,
|
||
Drury LJ,
|
||
Butchart S,
|
||
Fantauzzi M,
|
||
Langer JC,
|
||
Baker JM,
|
||
Blanchette VS,
|
||
Kirby-Allen M,
|
||
Carcao MD</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2020 Nov;191(3):486-496.
|
||
Epub 2020 May 20
|
||
doi: 10.1111/bjh.16750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436265" target="_blank">32436265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31823208">Laboratory Approach to Hemolytic Anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamwal M,
|
||
Sharma P,
|
||
Das R</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Jan;87(1):66-74.
|
||
Epub 2019 Dec 10
|
||
doi: 10.1007/s12098-019-03119-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31823208" target="_blank">31823208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28463670">Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manciu S,
|
||
Matei E,
|
||
Trandafir B</span><br />
|
||
<span class="medgenPMjournal">Chirurgia (Bucur)</span>
|
||
2017 Mar-Apr;112(2):110-116.
|
||
doi: 10.21614/chirurgia.112.2.110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28463670" target="_blank">28463670</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18940465">Hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Perrotta S,
|
||
Gallagher PG,
|
||
Mohandas N</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2008 Oct 18;372(9647):1411-26.
|
||
doi: 10.1016/S0140-6736(08)61588-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18940465" target="_blank">18940465</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (434)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689357">The diagnostic protocol for hereditary spherocytosis-2021 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Liao L,
|
||
Lin F</span><br />
|
||
<span class="medgenPMjournal">J Clin Lab Anal</span>
|
||
2021 Dec;35(12):e24034.
|
||
Epub 2021 Oct 24
|
||
doi: 10.1002/jcla.24034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34689357" target="_blank">34689357</a><a href="/pmc/articles/PMC8649336" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29402830">Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He BJ,
|
||
Liao L,
|
||
Deng ZF,
|
||
Tao YF,
|
||
Xu YC,
|
||
Lin FQ</span><br />
|
||
<span class="medgenPMjournal">Acta Haematol</span>
|
||
2018;139(1):60-66.
|
||
Epub 2018 Jan 22
|
||
doi: 10.1159/000486229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29402830" target="_blank">29402830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15202694">Hemolytic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dhaliwal G,
|
||
Cornett PA,
|
||
Tierney LM Jr</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2004 Jun 1;69(11):2599-606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15202694" target="_blank">15202694</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15121908">Hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah S,
|
||
Vega R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2004 May;25(5):168-72.
|
||
doi: 10.1542/pir.25-5-168.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15121908" target="_blank">15121908</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1102180">Hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bellingham AJ,
|
||
Prankerd TA</span><br />
|
||
<span class="medgenPMjournal">Clin Haematol</span>
|
||
1975 Feb;4(1):139-44.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1102180" target="_blank">1102180</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (643)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/28550188">Recommendations regarding splenectomy in hereditary hemolytic anemias.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1212438">Hypocholesterolaemia and anaemia.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1166975">Therapeutic splenectomy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cowick D,
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<div class="nl"><a target="_blank" href="/pubmed/1102180">Hereditary spherocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bellingham AJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (182)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38934620">Hereditary Spherocytosis with Mitochondrial Retention, Increased Oxidative Stress, and Alterations to Bioactive Membrane Lipids.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38934620" target="_blank">38934620</a><a href="/pmc/articles/PMC11272435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36071563">Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
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Shu H,
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Zhou M,
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Gong Y</span><br />
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2022 Dec;102(6):474-482.
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Epub 2022 Sep 26
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<span class="bold">PMID: </span><a href="/pubmed/36071563" target="_blank">36071563</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32436265">Genotype-phenotype correlation in children with hereditary spherocytosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tole S,
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Dhir P,
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Pugi J,
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Drury LJ,
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Butchart S,
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Fantauzzi M,
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Langer JC,
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Baker JM,
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Blanchette VS,
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Kirby-Allen M,
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Carcao MD</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32436265" target="_blank">32436265</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/2644787">Hereditary spherocytosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Boyd AS</span><br />
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<span class="medgenPMjournal">Am Fam Physician</span>
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1989 Feb;39(2):167-72.
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<span class="bold">PMID: </span><a href="/pubmed/2644787" target="_blank">2644787</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1212438">Hypocholesterolaemia and anaemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Westerman MP</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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1975 Sep;31(1):87-94.
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<span class="bold">PMID: </span><a href="/pubmed/1212438" target="_blank">1212438</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (188)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37659465">Influence of age and sex on osmoscan indies for next-generation osmotic gradient ektacytometry.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pilgaard Kristiansen H,
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Winther-Larsen A</span><br />
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<span class="medgenPMjournal">Clin Chim Acta</span>
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2023 Aug 1;548:117532.
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Epub 2023 Sep 1
|
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doi: 10.1016/j.cca.2023.117532.
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<span class="bold">PMID: </span><a href="/pubmed/37659465" target="_blank">37659465</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36074689">Fetal-maternal incompatibility in the Rh system. Rh isoimmunization associated with hereditary spherocytosis: case presentation and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neamţu SD,
|
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Novac MB,
|
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Neamţu AV,
|
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Stanca ID,
|
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Boldeanu MV,
|
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Gluhovschi A,
|
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Stanca L,
|
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Dijmărescu AL,
|
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Manolea MM,
|
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Trăistaru MR,
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Mateescu GO,
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Siminel MA</span><br />
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<span class="medgenPMjournal">Rom J Morphol Embryol</span>
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2022 Jan-Mar;63(1):229-235.
|
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doi: 10.47162/RJME.63.1.26.
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<span class="bold">PMID: </span><a href="/pubmed/36074689" target="_blank">36074689</a><a href="/pmc/articles/PMC9593129" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34689357">The diagnostic protocol for hereditary spherocytosis-2021 update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
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Liao L,
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Lin F</span><br />
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<span class="medgenPMjournal">J Clin Lab Anal</span>
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2021 Dec;35(12):e24034.
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Epub 2021 Oct 24
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<span class="bold">PMID: </span><a href="/pubmed/34689357" target="_blank">34689357</a><a href="/pmc/articles/PMC8649336" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32436265">Genotype-phenotype correlation in children with hereditary spherocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tole S,
|
||
Dhir P,
|
||
Pugi J,
|
||
Drury LJ,
|
||
Butchart S,
|
||
Fantauzzi M,
|
||
Langer JC,
|
||
Baker JM,
|
||
Blanchette VS,
|
||
Kirby-Allen M,
|
||
Carcao MD</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
2020 Nov;191(3):486-496.
|
||
Epub 2020 May 20
|
||
doi: 10.1111/bjh.16750.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436265" target="_blank">32436265</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30898989">Gallbladder Disease in Children: A 20-year Single-center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pogorelić Z,
|
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Aralica M,
|
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Jukić M,
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Žitko V,
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Despot R,
|
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Jurić I</span><br />
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<span class="medgenPMjournal">Indian Pediatr</span>
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||
2019 May 15;56(5):384-386.
|
||
Epub 2019 Mar 17
|
||
<span class="bold">PMID: </span><a href="/pubmed/30898989" target="_blank">30898989</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (283)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/39470805">The efficacy of partial versus total splenectomy in the treatment of hereditary spherocytosis in children: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
|
||
Xue J,
|
||
Zhang J,
|
||
Zhou J</span><br />
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<span class="medgenPMjournal">Pediatr Surg Int</span>
|
||
2024 Oct 29;40(1):280.
|
||
doi: 10.1007/s00383-024-05879-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39470805" target="_blank">39470805</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36463227">A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Wang X,
|
||
Zheng N,
|
||
Wang X,
|
||
Liu Y,
|
||
Xue L</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2022 Dec 3;15(1):250.
|
||
doi: 10.1186/s12920-022-01399-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36463227" target="_blank">36463227</a><a href="/pmc/articles/PMC9719243" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35068068">A Systematic review on diagnostic methods of red cell membrane disorders in Asia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva R,
|
||
Amarasinghe D,
|
||
Perera S,
|
||
Premawardhena A</span><br />
|
||
<span class="medgenPMjournal">Int J Lab Hematol</span>
|
||
2022 Apr;44(2):248-262.
|
||
Epub 2022 Jan 23
|
||
doi: 10.1111/ijlh.13800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35068068" target="_blank">35068068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32202962">Concomitant Laparoscopic Splenectomy and Cholecystectomy: A Systematic Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schizas D,
|
||
Katsaros I,
|
||
Karatza E,
|
||
Kykalos S,
|
||
Spartalis E,
|
||
Tsourouflis G,
|
||
Dimitroulis D,
|
||
Nikiteas N</span><br />
|
||
<span class="medgenPMjournal">J Laparoendosc Adv Surg Tech A</span>
|
||
2020 Jul;30(7):730-736.
|
||
Epub 2020 Mar 23
|
||
doi: 10.1089/lap.2020.0004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32202962" target="_blank">32202962</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27300151">Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guizzetti L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Blood Cancer</span>
|
||
2016 Oct;63(10):1713-22.
|
||
Epub 2016 Jun 14
|
||
doi: 10.1002/pbc.26106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27300151" target="_blank">27300151</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hereditary%20spherocytosis%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
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|
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|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0037889%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0037889%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C0037889%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0037889%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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</ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=822" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hereditary%20spherocytosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hereditary%20spherocytosis%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hereditary%20spherocytosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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