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<meta name="keywords" content="C1839161, beta thalassemia x-linked thrombocytopenia syndrome, beta-thalassemia-x-linked thrombocytopenia syndrome, disease or syndrome, gata1, thrombocytopenia with beta-thalassemia, x-linked, thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive, thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis, x-linked thrombocytopenia with beta-thalassemia, xltt, 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="GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=326415
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ConceptID=C1839161
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Beta-thalassemia-X-linked thrombocytopenia syndrome<span class="h1sub">(XLTT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326415</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.">C1839161</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>THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Beta thalassemia X-linked thrombocytopenia syndrome (718196002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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="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></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GATA1 - ID: 2623 - NCBI Gene" href="/gene/2623" class="medgenPMinfo">GATA1</a> (Xp11.23)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010745" target="_blank">MONDO:0010745</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/314050" target="_blank">314050</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=231393">ORPHA231393</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1364" target="_blank">GATA1-Related Cytopenia</a></div><div>GATA1-related cytopenia is characterized by thrombocytopenia and/or anemia ranging from mild to severe. Thrombocytopenia typically presents in infancy as a bleeding disorder with easy bruising and mucosal bleeding (e.g., epistaxis). Anemia ranges from minimal (mild dyserythropoiesis) to severe (hydrops fetalis requiring in utero transfusion). At the extreme end of the clinical spectrum, severe hemorrhage and/or erythrocyte transfusion dependence are lifelong; at the milder end, anemia and the risk for bleeding may decrease spontaneously with age. One or more of the following may also be present: neutropenia, splenomegaly, cryptorchidism, hypospadias, and rarely additional clinical features of Diamond-Blackfan anemia. Heterozygous females may have mild-to-moderate symptoms such as menorrhagia. Rarely, GATA1-related cytopenia can progress to myelodysplastic syndrome or aplastic anemia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1364#gata1.Summary" target="NBK1364">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Diagnosis" target="NBK1364">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Clinical_Characteristics" target="NBK1364">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Genetically_Related_Allelic_Disord" target="NBK1364">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Differential_Diagnosis" target="NBK1364">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Management" target="NBK1364">Management</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Genetic_Counseling" target="NBK1364">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Resources" target="NBK1364">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Molecular_Genetics" target="NBK1364">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.Chapter_Notes" target="NBK1364">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1364#gata1.References" target="NBK1364">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Kaoru Takasaki | Melissa A Kacena | Wendy H Raskind<i>, et. al.</i> <a href="/books/NBK1364" target="NBK1364" title="NCBI Bookshelf: GATA1-Related Cytopenia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 OMIM</strong><br />XLTT is an X-linked recessive hematologic disorder characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis (summary by Ciovacco et al., 2008 and Millikan et al., 2011). <a target="_blank" href="http://www.omim.org/entry/314050">http://www.omim.org/entry/314050</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1916"><div><strong>Hemolytic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1916</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.">C0002878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of anemia caused by premature destruction of red blood cells (hemolysis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1916">Feature record</a> | <a href="/medgen?term=%22Hemolytic%20anemia%22%5BClinical%20Features%5D%20OR%201916%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4996"><div><strong>Epistaxis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4996</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.">C0014591</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4996">Feature record</a> | <a href="/medgen?term=%22Epistaxis%22%5BClinical%20Features%5D%20OR%204996%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56231"><div><strong>Prolonged bleeding time</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56231</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.">C0151529</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56231">Feature record</a> | <a href="/medgen?term=%22Prolonged%20bleeding%20time%22%5BClinical%20Features%5D%20OR%2056231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60089"><div><strong>Reticulocytosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60089</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.">C0206160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60089">Feature record</a> | <a href="/medgen?term=%22Reticulocytosis%22%5BClinical%20Features%5D%20OR%2060089%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1630967"><div><strong>Increased RBC distribution width</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1630967</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.">C0948014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1630967">Feature record</a> | <a href="/medgen?term=%22Increased%20RBC%20distribution%20width%22%5BClinical%20Features%5D%20OR%201630967%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_853131"><div><strong>Increased mean platelet volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>853131</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.">C1096367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Average platelet volume above the upper limit of the normal reference interval.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/853131">Feature record</a> | <a href="/medgen?term=%22Increased%20mean%20platelet%20volume%22%5BClinical%20Features%5D%20OR%20853131%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1789060"><div><strong>Reduced platelet alpha granules</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1789060</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.">C5539664</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduced number of platelet alpha granules.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1789060">Feature record</a> | <a href="/medgen?term=%22Reduced%20platelet%20alpha%20granules%22%5BClinical%20Features%5D%20OR%201789060%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</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.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10680"><div><strong>Petechiae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10680</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.">C0031256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10680">Feature record</a> | <a href="/medgen?term=%22Petechiae%22%5BClinical%20Features%5D%20OR%2010680%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140849"><div><strong>Bruising susceptibility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140849</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.">C0423798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140849">Feature record</a> | <a href="/medgen?term=%22Bruising%20susceptibility%22%5BClinical%20Features%5D%20OR%20140849%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epistaxis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemolytic anemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_853131" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased mean platelet volume</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1630967" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased RBC distribution width</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged bleeding time</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1789060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced platelet alpha granules</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60089" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reticulocytosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bruising susceptibility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Petechiae</a></span></li></ul></li></ul></div></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>
|
||
<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=C1839161[DISCUI]&test_type=Clinical" ref="ncbi_uid=326415">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=326415" target="_blank" href="/omim/305371">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1364/" ref="ncbi_uid=326415">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=326415" ref="ncbi_uid=326415">V</a></span></span><span class="TLline">Beta-thalassemia-X-linked thrombocytopenia syndrome</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1843222" ref="tree=MeSH" title="MedGen record for Beta-thalassemia with other manifestations">Beta-thalassemia with other manifestations</a></span><ul><li><span class="matched_ds">Beta-thalassemia-X-linked thrombocytopenia syndrome</span></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=19182&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Beta-thalassemia-X-linked thrombocytopenia syndrome</span> in Orphanet.</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/36066514">Diagnosis and Treatment of Myelodysplastic Syndromes: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sekeres MA,
|
||
Taylor J</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2022 Sep 6;328(9):872-880.
|
||
doi: 10.1001/jama.2022.14578.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36066514" target="_blank">36066514</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34231046">Evidence-based clinical practice guidelines for Liver Cirrhosis 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshiji H,
|
||
Nagoshi S,
|
||
Akahane T,
|
||
Asaoka Y,
|
||
Ueno Y,
|
||
Ogawa K,
|
||
Kawaguchi T,
|
||
Kurosaki M,
|
||
Sakaida I,
|
||
Shimizu M,
|
||
Taniai M,
|
||
Terai S,
|
||
Nishikawa H,
|
||
Hiasa Y,
|
||
Hidaka H,
|
||
Miwa H,
|
||
Chayama K,
|
||
Enomoto N,
|
||
Shimosegawa T,
|
||
Takehara T,
|
||
Koike K</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol</span>
|
||
2021 Jul;56(7):593-619.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1007/s00535-021-01788-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34231046" target="_blank">34231046</a><a href="/pmc/articles/PMC8280040" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33051219">Update οn the diagnosis and management of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fanouriakis A,
|
||
Tziolos N,
|
||
Bertsias G,
|
||
Boumpas DT</span><br />
|
||
<span class="medgenPMjournal">Ann Rheum Dis</span>
|
||
2021 Jan;80(1):14-25.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1136/annrheumdis-2020-218272.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33051219" target="_blank">33051219</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(beta-thalassemia-x-linked%20thrombocytopenia%20syndrome)%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 (936)</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/36272423">Haemolytic uraemic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michael M,
|
||
Bagga A,
|
||
Sartain SE,
|
||
Smith RJH</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2022 Nov 12;400(10364):1722-1740.
|
||
Epub 2022 Oct 19
|
||
doi: 10.1016/S0140-6736(22)01202-8.
|
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<span class="bold">PMID: </span><a href="/pubmed/36272423" target="_blank">36272423</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31757523">Thrombocytopenia in pregnancy: Diagnosis and approach to management.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Pishko AM,
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Levine LD,
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Cines DB</span><br />
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<span class="medgenPMjournal">Blood Rev</span>
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2020 Mar;40:100638.
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Epub 2019 Nov 6
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<span class="bold">PMID: </span><a href="/pubmed/31757523" target="_blank">31757523</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/30864154">How I manage patients with Wiskott Aldrich syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rivers E,
|
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Worth A,
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Thrasher AJ,
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Burns SO</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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2019 May;185(4):647-655.
|
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Epub 2019 Mar 12
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<span class="bold">PMID: </span><a href="/pubmed/30864154" target="_blank">30864154</a><a href="/pmc/articles/PMC7612067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/28637667">Thrombocytopenia in pregnancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Cines DB,
|
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Levine LD</span><br />
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<span class="medgenPMjournal">Blood</span>
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2017 Nov 23;130(21):2271-2277.
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Epub 2017 Jun 21
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<span class="bold">PMID: </span><a href="/pubmed/28637667" target="_blank">28637667</a><a href="/pmc/articles/PMC5701522" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/12053836">Thrombotic microangiopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Halevy D,
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Radhakrishnan J,
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Markowitz G,
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Appel G</span><br />
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<span class="medgenPMjournal">Crit Care Clin</span>
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2002 Apr;18(2):309-20, vi.
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doi: 10.1016/s0749-0704(01)00004-5.
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<span class="bold">PMID: </span><a href="/pubmed/12053836" target="_blank">12053836</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (6114)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38968944">Diagnosis and management of Evans syndrome in adults: first consensus recommendations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fattizzo B,
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Marchetti M,
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Michel M,
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Cantoni S,
|
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Frederiksen H,
|
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Giordano G,
|
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Glenthøj A,
|
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González-López TJ,
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Murakhovskaya I,
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Napolitano M,
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Mingot ME,
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Arguello M,
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Patriarca A,
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Raso S,
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Vianelli N,
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Barcellini W</span><br />
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<span class="medgenPMjournal">Lancet Haematol</span>
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2024 Aug;11(8):e617-e628.
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Epub 2024 Jul 2
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doi: 10.1016/S2352-3026(24)00144-3.
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<span class="bold">PMID: </span><a href="/pubmed/38968944" target="_blank">38968944</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35282950">Adult Evans' Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Michel M</span><br />
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<span class="medgenPMjournal">Hematol Oncol Clin North Am</span>
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2022 Apr;36(2):381-392.
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Epub 2022 Mar 11
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doi: 10.1016/j.hoc.2021.12.004.
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<span class="bold">PMID: </span><a href="/pubmed/35282950" target="_blank">35282950</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/31757523">Thrombocytopenia in pregnancy: Diagnosis and approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pishko AM,
|
||
Levine LD,
|
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Cines DB</span><br />
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<span class="medgenPMjournal">Blood Rev</span>
|
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2020 Mar;40:100638.
|
||
Epub 2019 Nov 6
|
||
doi: 10.1016/j.blre.2019.100638.
|
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<span class="bold">PMID: </span><a href="/pubmed/31757523" target="_blank">31757523</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/31269407">How I approach new onset thrombocytopenia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Swain F,
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Bird R</span><br />
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<span class="medgenPMjournal">Platelets</span>
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2020;31(3):285-290.
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Epub 2019 Jul 3
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doi: 10.1080/09537104.2019.1637835.
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<span class="bold">PMID: </span><a href="/pubmed/31269407" target="_blank">31269407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27461045">The diagnosis and management of the haematologic manifestations of lupus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Velo-García A,
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Castro SG,
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Isenberg DA</span><br />
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<span class="medgenPMjournal">J Autoimmun</span>
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2016 Nov;74:139-160.
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Epub 2016 Jul 25
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doi: 10.1016/j.jaut.2016.07.001.
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<span class="bold">PMID: </span><a href="/pubmed/27461045" target="_blank">27461045</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (7445)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38968944">Diagnosis and management of Evans syndrome in adults: first consensus recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fattizzo B,
|
||
Marchetti M,
|
||
Michel M,
|
||
Cantoni S,
|
||
Frederiksen H,
|
||
Giordano G,
|
||
Glenthøj A,
|
||
González-López TJ,
|
||
Murakhovskaya I,
|
||
Napolitano M,
|
||
Mingot ME,
|
||
Arguello M,
|
||
Patriarca A,
|
||
Raso S,
|
||
Vianelli N,
|
||
Barcellini W</span><br />
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<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2024 Aug;11(8):e617-e628.
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Epub 2024 Jul 2
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doi: 10.1016/S2352-3026(24)00144-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38968944" target="_blank">38968944</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31661590">How Can I Manage Thrombocytopenia in Hemodialysis Patient? A Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guo Q,
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Lou Y,
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Liu L,
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Luo P</span><br />
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<span class="medgenPMjournal">Ther Apher Dial</span>
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2020 Aug;24(4):352-360.
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Epub 2019 Dec 2
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doi: 10.1111/1744-9987.13448.
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<span class="bold">PMID: </span><a href="/pubmed/31661590" target="_blank">31661590</a></div>
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||
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<div class="nl"><a target="_blank" href="/pubmed/30747002">Thrombocytopenic emergencies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tafesh L,
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Summerfield G</span><br />
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<span class="medgenPMjournal">Br J Hosp Med (Lond)</span>
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2019 Feb 2;80(2):C18-C21.
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doi: 10.12968/hmed.2019.80.2.C18.
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<span class="bold">PMID: </span><a href="/pubmed/30747002" target="_blank">30747002</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27461045">The diagnosis and management of the haematologic manifestations of lupus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Velo-García A,
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Castro SG,
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Isenberg DA</span><br />
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<span class="medgenPMjournal">J Autoimmun</span>
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2016 Nov;74:139-160.
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Epub 2016 Jul 25
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doi: 10.1016/j.jaut.2016.07.001.
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<span class="bold">PMID: </span><a href="/pubmed/27461045" target="_blank">27461045</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20888459">Kasabach-Merritt phenomenon.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kelly M</span><br />
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
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2010 Oct;57(5):1085-9.
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Epub 2010 Aug 21
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doi: 10.1016/j.pcl.2010.07.006.
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<span class="bold">PMID: </span><a href="/pubmed/20888459" target="_blank">20888459</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (6505)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38968944">Diagnosis and management of Evans syndrome in adults: first consensus recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fattizzo B,
|
||
Marchetti M,
|
||
Michel M,
|
||
Cantoni S,
|
||
Frederiksen H,
|
||
Giordano G,
|
||
Glenthøj A,
|
||
González-López TJ,
|
||
Murakhovskaya I,
|
||
Napolitano M,
|
||
Mingot ME,
|
||
Arguello M,
|
||
Patriarca A,
|
||
Raso S,
|
||
Vianelli N,
|
||
Barcellini W</span><br />
|
||
<span class="medgenPMjournal">Lancet Haematol</span>
|
||
2024 Aug;11(8):e617-e628.
|
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Epub 2024 Jul 2
|
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doi: 10.1016/S2352-3026(24)00144-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38968944" target="_blank">38968944</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36880929">Hemolytic-Uremic Syndrome in Children.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boyer O,
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Niaudet P</span><br />
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<span class="medgenPMjournal">Pediatr Clin North Am</span>
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2022 Dec;69(6):1181-1197.
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Epub 2022 Oct 29
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doi: 10.1016/j.pcl.2022.07.006.
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<span class="bold">PMID: </span><a href="/pubmed/36880929" target="_blank">36880929</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20051407">Complications of massive transfusion.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sihler KC,
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Napolitano LM</span><br />
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<span class="medgenPMjournal">Chest</span>
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2010 Jan;137(1):209-20.
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doi: 10.1378/chest.09-0252.
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<span class="bold">PMID: </span><a href="/pubmed/20051407" target="_blank">20051407</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/12053836">Thrombotic microangiopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Halevy D,
|
||
Radhakrishnan J,
|
||
Markowitz G,
|
||
Appel G</span><br />
|
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<span class="medgenPMjournal">Crit Care Clin</span>
|
||
2002 Apr;18(2):309-20, vi.
|
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doi: 10.1016/s0749-0704(01)00004-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12053836" target="_blank">12053836</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/7949083">The 5q-syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Boultwood J,
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Lewis S,
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Wainscoat JS</span><br />
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<span class="medgenPMjournal">Blood</span>
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1994 Nov 15;84(10):3253-60.
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<span class="bold">PMID: </span><a href="/pubmed/7949083" target="_blank">7949083</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (4375)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/29674195">Thrombotic microangiopathies of pregnancy: Differential diagnosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gupta M,
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Feinberg BB,
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Burwick RM</span><br />
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<span class="medgenPMjournal">Pregnancy Hypertens</span>
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2018 Apr;12:29-34.
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<span class="bold">PMID: </span><a href="/pubmed/29674195" target="_blank">29674195</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27461045">The diagnosis and management of the haematologic manifestations of lupus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Velo-García A,
|
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Castro SG,
|
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Isenberg DA</span><br />
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<span class="medgenPMjournal">J Autoimmun</span>
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2016 Nov;74:139-160.
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Epub 2016 Jul 25
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doi: 10.1016/j.jaut.2016.07.001.
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<span class="bold">PMID: </span><a href="/pubmed/27461045" target="_blank">27461045</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20162249">Heparin-induced thrombocytopenia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Greinacher A,
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Althaus K,
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Krauel K,
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2010 Jan;30(1):17-8, 20-8.
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<span class="bold">PMID: </span><a href="/pubmed/20162249" target="_blank">20162249</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20051407">Complications of massive transfusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sihler KC,
|
||
Napolitano LM</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
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2010 Jan;137(1):209-20.
|
||
doi: 10.1378/chest.09-0252.
|
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<span class="bold">PMID: </span><a href="/pubmed/20051407" target="_blank">20051407</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14965489">Thrombocytopenia in pregnancy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Karim R,
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Sacher RA</span><br />
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<span class="medgenPMjournal">Curr Hematol Rep</span>
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2004 Mar;3(2):128-33.
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<span class="bold">PMID: </span><a href="/pubmed/14965489" target="_blank">14965489</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (3661)</a></div></div>
|
||
</div>
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|
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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">
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<div class="nl"><a target="_blank" href="/pubmed/35705835">A Comprehensive Review of Hepatic Hemangioma Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aziz H,
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Brown ZJ,
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Baghdadi A,
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Kamel IR,
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Pawlik TM</span><br />
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Epub 2022 Jun 15
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doi: 10.1007/s11605-022-05382-1.
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<span class="bold">PMID: </span><a href="/pubmed/35705835" target="_blank">35705835</a></div>
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||
|
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<div class="nl"><a target="_blank" href="/pubmed/34932836">Transfusion thresholds for guiding red blood cell transfusion.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Carson JL,
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Stanworth SJ,
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Dennis JA,
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Trivella M,
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Roubinian N,
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Fergusson DA,
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Triulzi D,
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Dorée C,
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Hébert PC</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2021 Dec 21;12(12):CD002042.
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doi: 10.1002/14651858.CD002042.pub5.
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<span class="bold">PMID: </span><a href="/pubmed/34932836" target="_blank">34932836</a><a href="/pmc/articles/PMC8691808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32282949">Hematological findings and complications of COVID-19.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Terpos E,
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Ntanasis-Stathopoulos I,
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Elalamy I,
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Kastritis E,
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Sergentanis TN,
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Politou M,
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Psaltopoulou T,
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Gerotziafas G,
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<span class="medgenPMjournal">Am J Hematol</span>
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2020 Jul;95(7):834-847.
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Epub 2020 May 23
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<span class="bold">PMID: </span><a href="/pubmed/32282949" target="_blank">32282949</a><a href="/pmc/articles/PMC7262337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31555262">Systematic Review of Safety and Efficacy of Rituximab in Treating Immune-Mediated Disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kaegi C,
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Wuest B,
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Schreiner J,
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Steiner UC,
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Vultaggio A,
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Matucci A,
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<span class="medgenPMjournal">Front Immunol</span>
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2019;10:1990.
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Epub 2019 Sep 6
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|
||
<span class="bold">PMID: </span><a href="/pubmed/31555262" target="_blank">31555262</a><a href="/pmc/articles/PMC6743223" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25414441">Drug-induced thrombotic microangiopathy: a systematic review of published reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Nouri ZL,
|
||
Reese JA,
|
||
Terrell DR,
|
||
Vesely SK,
|
||
George JN</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
2015 Jan 22;125(4):616-8.
|
||
Epub 2014 Nov 20
|
||
doi: 10.1182/blood-2014-11-611335.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25414441" target="_blank">25414441</a><a href="/pmc/articles/PMC4304106" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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 (211)</a></div></div>
|
||
</div>
|
||
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|
||
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1839161%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839161%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1839161%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1839161%5bDISCUI%5d" target="_blank">See all (34)</a></total></li>
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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=(beta-thalassemia-x-linked%20thrombocytopenia%20syndrome)%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(%22Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome%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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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=305371" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2623[geneid]" target="_blank">View GATA1 variations in ClinVar</a></li><li><a href="/nuccore/209977059" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=314050" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Thrombocytopenia%2C+platelet+dysfunction%2C+hemolysis%2C+and+imbalanced+globin+synthesis/9391" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/thrombocytopenia_with_beta_thalassemia_x_linked" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Beta-thalassemia-X-linked%20thrombocytopenia%20syndrome" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17166/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=326415" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=326415" ref="log$=recordlinks">PubMed (OMIM)</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d40b6367c23b31e0d400d7">Beta-thalassemia-X-linked thrombocytopenia syndrome</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d40b52cde49f3df7f49fe3">Table A. [GATA1-Related Cytopenia: Genes and Databases]. - GeneReviews®</a>
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<div class="ralinkpop offscreen_noflow">Table A. [GATA1-Related Cytopenia: Genes and Databases]. - GeneReviews®<div class="brieflinkpopdesc"></div></div>
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