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<!--
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||
UID=488883
|
||
ConceptID=C0391870
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal erythrocyte morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488883</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.">C0391870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal erythrocyte; Abnormality of erythrocytes; Abnormality of erythroid lineage cell; Abnormality of red blood cells; Erythrocyte abnormality</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Erythrocyte abnormality (12222001); Abnormal erythrocyte (12222001); Abnormality of red blood cells (12222001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001877">HP:0001877</a></td></tr>
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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">Any structural abnormality of erythrocytes (red-blood cells). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<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>
|
||
<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=C0391870[DISCUI]&test_type=Clinical" ref="ncbi_uid=488883">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Abnormal erythrocyte morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="matched_ds">Abnormal erythrocyte morphology</span><ul><li><span class="TLline"><a href="/medgen/1842125" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte adenosine triphosphate concentration">Abnormal erythrocyte adenosine triphosphate concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1842068" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte adenosine triphosphate concentration">Elevated erythrocyte adenosine triphosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841667" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte adenosine triphosphate concentration">Reduced erythrocyte adenosine triphosphate concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1841906" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte metabolite concentration">Abnormal erythrocyte metabolite concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1864064" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte AICA-ribotide concentration">Elevated erythrocyte AICA-ribotide concentration</a></span></li><li><span class="TLline"><a href="/medgen/1864197" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte galactose-1-phosphate concentration">Elevated erythrocyte galactose-1-phosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1863960" ref="tree=MeSH" title="MedGen record for Elevated erythrocyte inosine triphosphate concentration">Elevated erythrocyte inosine triphosphate concentration</a></span></li><li><span class="TLline"><a href="/medgen/868155" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte 2,3-diphosphoglycerate concentration">Reduced erythrocyte 2,3-diphosphoglycerate concentration</a></span></li><li><span class="TLline"><a href="/medgen/1841986" ref="tree=MeSH" title="MedGen record for Reduced erythrocyte glutathione concentration">Reduced erythrocyte glutathione concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1630947" ref="tree=MeSH" title="MedGen record for Abnormal hematocrit">Abnormal hematocrit</a></span><ul><li><span class="TLline"><a href="/medgen/68692" ref="tree=MeSH" title="MedGen record for Increased hematocrit">Increased hematocrit</a></span></li><li><span class="TLline"><a href="/medgen/1630955" ref="tree=MeSH" title="MedGen record for Reduced hematocrit">Reduced hematocrit</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/776552" ref="tree=MeSH" title="MedGen record for Abnormal hemoglobin">Abnormal hemoglobin</a></span><ul><li><span class="TLline"><a href="/medgen/892798" ref="tree=MeSH" title="MedGen record for Elevated hemoglobin A1c">Elevated hemoglobin A1c</a></span></li><li><span class="TLline"><a href="/medgen/1688191" ref="tree=MeSH" title="MedGen record for HbC hemoglobin">HbC hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/42397" ref="tree=MeSH" title="MedGen record for HbH hemoglobin">HbH hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/924209" ref="tree=MeSH" title="MedGen record for HbS hemoglobin">HbS hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/29772" ref="tree=MeSH" title="MedGen record for Hemoglobin Barts">Hemoglobin Barts</a></span></li><li><span class="TLline"><a href="/medgen/870723" ref="tree=MeSH" title="MedGen record for Imbalanced hemoglobin synthesis">Imbalanced hemoglobin synthesis</a></span><ul><li><span class="TLline"><a href="/medgen/868731" ref="tree=MeSH" title="MedGen record for Reduced alpha/beta synthesis ratio">Reduced alpha/beta synthesis ratio</a></span></li><li><span class="TLline"><a href="/medgen/868732" ref="tree=MeSH" title="MedGen record for Reduced beta/alpha synthesis ratio">Reduced beta/alpha synthesis ratio</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/893100" ref="tree=MeSH" title="MedGen record for Increased HbA2 hemoglobin">Increased HbA2 hemoglobin</a></span></li><li><span class="TLline"><a href="/medgen/6339" ref="tree=MeSH" title="MedGen record for Methemoglobinemia">Methemoglobinemia</a></span><ul><li><span class="TLline"><a href="/medgen/473012" ref="tree=MeSH" title="MedGen record for Acquired methemoglobinemia">Acquired methemoglobinemia</a></span></li><li><span class="TLline"><a href="/medgen/473013" ref="tree=MeSH" title="MedGen record for Hereditary methemoglobinemia">Hereditary methemoglobinemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/68693" ref="tree=MeSH" title="MedGen record for Persistence of hemoglobin F">Persistence of hemoglobin F</a></span></li><li><span class="TLline"><a href="/medgen/868733" ref="tree=MeSH" title="MedGen record for Reduced hemoglobin A">Reduced hemoglobin A</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1671071" ref="tree=MeSH" title="MedGen record for Abnormal hemoglobin concentration">Abnormal hemoglobin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1670936" ref="tree=MeSH" title="MedGen record for Decreased hemoglobin concentration">Decreased hemoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/108199" ref="tree=MeSH" title="MedGen record for Increased circulating hemoglobin concentration">Increased circulating hemoglobin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/663424" ref="tree=MeSH" title="MedGen record for Abnormal mean corpuscular hemoglobin concentration">Abnormal mean corpuscular hemoglobin concentration</a></span><ul><li><span class="TLline"><a href="/medgen/605648" ref="tree=MeSH" title="MedGen record for Decreased mean corpuscular hemoglobin concentration">Decreased mean corpuscular hemoglobin concentration</a></span></li><li><span class="TLline"><a href="/medgen/605654" ref="tree=MeSH" title="MedGen record for Increased mean corpuscular hemoglobin concentration">Increased mean corpuscular hemoglobin concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1648289" ref="tree=MeSH" title="MedGen record for Abnormal mean corpuscular volume">Abnormal mean corpuscular volume</a></span><ul><li><span class="TLline"><a href="/medgen/1375398" ref="tree=MeSH" title="MedGen record for Decreased mean corpuscular volume">Decreased mean corpuscular volume</a></span></li><li><span class="TLline"><a href="/medgen/81303" ref="tree=MeSH" title="MedGen record for Increased mean corpuscular volume">Increased mean corpuscular volume</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868633" ref="tree=MeSH" title="MedGen record for Abnormal number of erythroid precursors">Abnormal number of erythroid precursors</a></span><ul><li><span class="TLline"><a href="/medgen/4536" ref="tree=MeSH" title="MedGen record for Erythroid hyperplasia">Erythroid hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/235316" ref="tree=MeSH" title="MedGen record for Megaloblastic erythroid hyperplasia">Megaloblastic erythroid hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/233250" ref="tree=MeSH" title="MedGen record for Normoblastic Erythroid Hyperplasia">Normoblastic Erythroid Hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488912" ref="tree=MeSH" title="MedGen record for Erythroid hypoplasia">Erythroid hypoplasia</a></span></li><li><span class="TLline"><a href="/medgen/11154" ref="tree=MeSH" title="MedGen record for Pure red-cell aplasia">Pure red-cell aplasia</a></span><ul><li><span class="TLline"><a href="/medgen/90957" ref="tree=MeSH" title="MedGen record for Acquired red cell aplasia">Acquired red cell aplasia</a></span></li><li><span class="TLline"><a href="/medgen/266045" ref="tree=MeSH" title="MedGen record for Diamond-Blackfan anemia">Diamond-Blackfan anemia</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/663423" ref="tree=MeSH" title="MedGen record for Abnormal red blood cell count">Abnormal red blood cell count</a></span><ul><li><span class="TLline"><a href="/medgen/605665" ref="tree=MeSH" title="MedGen record for Decreased red blood cell count">Decreased red blood cell count</a></span></li><li><span class="TLline"><a href="/medgen/605666" ref="tree=MeSH" title="MedGen record for Increased red blood cell count">Increased red blood cell count</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870896" ref="tree=MeSH" title="MedGen record for Abnormal reticulocyte morphology">Abnormal reticulocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/90731" ref="tree=MeSH" title="MedGen record for Polychromasia">Polychromasia</a></span></li><li><span class="TLline"><a href="/medgen/167812" ref="tree=MeSH" title="MedGen record for Reticulocytopenia">Reticulocytopenia</a></span></li><li><span class="TLline"><a href="/medgen/60089" ref="tree=MeSH" title="MedGen record for Reticulocytosis">Reticulocytosis</a></span></li></ul></li><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/507442" ref="tree=MeSH" title="MedGen record for Anemia due to chronic disorder">Anemia due to chronic disorder</a></span></li><li><span class="TLline"><a href="/medgen/1388746" ref="tree=MeSH" title="MedGen record for Anemia due to Decreased Production">Anemia due to Decreased Production</a></span></li><li><span class="TLline"><a href="/medgen/1921" ref="tree=MeSH" title="MedGen record for Anemia due to Disorder of Glutathione Metabolism">Anemia due to Disorder of Glutathione Metabolism</a></span></li><li><span class="TLline"><a href="/medgen/141648" ref="tree=MeSH" title="MedGen record for Anemia due to disorders of nucleotide metabolism">Anemia due to disorders of nucleotide metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/574095" ref="tree=MeSH" title="MedGen record for Uridine monophosphate hydrolase deficiency">Uridine monophosphate hydrolase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/105411" ref="tree=MeSH" title="MedGen record for Anemia due to enzyme disorder">Anemia due to enzyme disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1383362" ref="tree=MeSH" title="MedGen record for Anemia due to erythrocyte enzyme disorder">Anemia due to erythrocyte enzyme disorder</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1377882" ref="tree=MeSH" title="MedGen record for Anemia due to Increased Destruction">Anemia due to Increased Destruction</a></span></li><li><span class="TLline"><a href="/medgen/866761" ref="tree=MeSH" title="MedGen record for Anemia due to reduced life span of red cells">Anemia due to reduced life span of red cells</a></span><ul><li><span class="TLline"><a href="/medgen/1916" ref="tree=MeSH" title="MedGen record for Hemolytic anemia">Hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/870257" ref="tree=MeSH" title="MedGen record for Increased red cell sickling tendency">Increased red cell sickling tendency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/95937" ref="tree=MeSH" title="MedGen record for Anemia of inadequate production">Anemia of inadequate production</a></span><ul><li><span class="TLline"><a href="/medgen/8065" ref="tree=MeSH" title="MedGen record for Hypochromic anemia">Hypochromic anemia</a></span></li><li><span class="TLline"><a href="/medgen/64229" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia">Hypoplastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1920" ref="tree=MeSH" title="MedGen record for Macrocytic anemia">Macrocytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1673948" ref="tree=MeSH" title="MedGen record for Microcytic anemia">Microcytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/66731" ref="tree=MeSH" title="MedGen record for Normochromic anemia">Normochromic anemia</a></span></li><li><span class="TLline"><a href="/medgen/39310" ref="tree=MeSH" title="MedGen record for Normocytic anemia">Normocytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/8067" ref="tree=MeSH" title="MedGen record for Sideroblastic anemia">Sideroblastic anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472907" ref="tree=MeSH" title="MedGen record for Anemia of prematurity">Anemia of prematurity</a></span></li><li><span class="TLline"><a href="/medgen/8063" ref="tree=MeSH" title="MedGen record for Aplastic anemia">Aplastic anemia</a></span><ul><li><span class="TLline"><a href="/medgen/75769" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to drugs">Aplastic anemia due to drugs</a></span></li><li><span class="TLline"><a href="/medgen/124414" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to infection">Aplastic anemia due to infection</a></span></li><li><span class="TLline"><a href="/medgen/99172" ref="tree=MeSH" title="MedGen record for Aplastic anemia due to radiation">Aplastic anemia due to radiation</a></span></li><li><span class="TLline"><a href="/medgen/182696" ref="tree=MeSH" title="MedGen record for Hypoplastic anemia - familial">Hypoplastic anemia - familial</a></span></li><li><span class="TLline"><a href="/medgen/87595" ref="tree=MeSH" title="MedGen record for Idiopathic aplastic anemia">Idiopathic aplastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1750439" ref="tree=MeSH" title="MedGen record for Non-Severe Aplastic Anemia">Non-Severe Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1661033" ref="tree=MeSH" title="MedGen record for Recurrent Aplastic Anemia">Recurrent Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/407975" ref="tree=MeSH" title="MedGen record for Severe Aplastic Anemia">Severe Aplastic Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1732130" ref="tree=MeSH" title="MedGen record for Very Severe Aplastic Anemia">Very Severe Aplastic Anemia</a></span></li></ul></li><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/8064" ref="tree=MeSH" title="MedGen record for Congenital dyserythropoietic anemia">Congenital dyserythropoietic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1919" ref="tree=MeSH" title="MedGen record for Familial hemolytic anemia">Familial hemolytic anemia</a></span></li><li><span class="TLline"><a href="/medgen/65119" ref="tree=MeSH" title="MedGen record for Hereditary sideroblastic anemia">Hereditary sideroblastic anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87187" ref="tree=MeSH" title="MedGen record for Hypochromia">Hypochromia</a></span></li><li><span class="TLline"><a href="/medgen/388097" ref="tree=MeSH" title="MedGen record for Mild Anemia">Mild Anemia</a></span></li><li><span class="TLline"><a href="/medgen/1529" ref="tree=MeSH" title="MedGen record for Myelophthisic anemia">Myelophthisic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1530" ref="tree=MeSH" title="MedGen record for Neonatal anemia">Neonatal anemia</a></span><ul><li><span class="TLline"><a href="/medgen/8829" ref="tree=MeSH" title="MedGen record for Fetal-maternal hemorrhage">Fetal-maternal hemorrhage</a></span></li><li><span class="TLline"><a href="/medgen/777055" ref="tree=MeSH" title="MedGen record for Twin-to-twin transfusion">Twin-to-twin transfusion</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/233903" ref="tree=MeSH" title="MedGen record for Radiation Anemia">Radiation Anemia</a></span></li><li><span class="TLline"><a href="/medgen/286" ref="tree=MeSH" title="MedGen record for Refractory anemia">Refractory anemia</a></span><ul><li><span class="TLline"><a href="/medgen/8066" ref="tree=MeSH" title="MedGen record for Myelodysplastic syndrome with excess blasts">Myelodysplastic syndrome with excess blasts</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1679264" ref="tree=MeSH" title="MedGen record for Steroid-responsive anemia">Steroid-responsive anemia</a></span></li><li><span class="TLline"><a href="/medgen/909652" ref="tree=MeSH" title="MedGen record for Transient erythroblastopenia">Transient erythroblastopenia</a></span></li><li><span class="TLline"><a href="/medgen/277833" ref="tree=MeSH" title="MedGen record for Treatment-Induced Anemia">Treatment-Induced Anemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66371" ref="tree=MeSH" title="MedGen record for Anisocytosis">Anisocytosis</a></span></li><li><span class="TLline"><a href="/medgen/869198" ref="tree=MeSH" title="MedGen record for Blood group antigen abnormality">Blood group antigen abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/869197" ref="tree=MeSH" title="MedGen record for Absence of Lutheran antigen on erythrocytes">Absence of Lutheran antigen on erythrocytes</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1785393" ref="tree=MeSH" title="MedGen record for Circulating nucleated red blood cells">Circulating nucleated red blood cells</a></span></li><li><span class="TLline"><a href="/medgen/868632" ref="tree=MeSH" title="MedGen record for Dysplastic erythropoesis">Dysplastic erythropoesis</a></span></li><li><span class="TLline"><a href="/medgen/1670950" ref="tree=MeSH" title="MedGen record for Erythrocyte inclusion bodies">Erythrocyte inclusion bodies</a></span><ul><li><span class="TLline"><a href="/medgen/42375" ref="tree=MeSH" title="MedGen record for Heinz bodies">Heinz bodies</a></span></li><li><span class="TLline"><a href="/medgen/5644" ref="tree=MeSH" title="MedGen record for Howell-Jolly bodies">Howell-Jolly bodies</a></span></li><li><span class="TLline"><a href="/medgen/137696" ref="tree=MeSH" title="MedGen record for Pappenheimer bodies">Pappenheimer bodies</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1689163" ref="tree=MeSH" title="MedGen record for Increased Burr cell count">Increased Burr cell count</a></span></li><li><span class="TLline"><a href="/medgen/1630967" ref="tree=MeSH" title="MedGen record for Increased RBC distribution width">Increased RBC distribution width</a></span></li><li><span class="TLline"><a href="/medgen/67451" ref="tree=MeSH" title="MedGen record for Poikilocytosis">Poikilocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/195801" ref="tree=MeSH" title="MedGen record for Acanthocytosis">Acanthocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/1253" ref="tree=MeSH" title="MedGen record for Abetalipoproteinaemia">Abetalipoproteinaemia</a></span></li><li><span class="TLline"><a href="/medgen/140765" ref="tree=MeSH" title="MedGen record for McLeod neuroacanthocytosis syndrome">McLeod neuroacanthocytosis syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/436556" ref="tree=MeSH" title="MedGen record for Anisopoikilocytosis">Anisopoikilocytosis</a></span></li><li><span class="TLline"><a href="/medgen/699462" ref="tree=MeSH" title="MedGen record for Bite cells">Bite cells</a></span></li><li><span class="TLline"><a href="/medgen/754503" ref="tree=MeSH" title="MedGen record for Dacryocytosis">Dacryocytosis</a></span></li><li><span class="TLline"><a href="/medgen/98107" ref="tree=MeSH" title="MedGen record for Elliptocytosis">Elliptocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/346490" ref="tree=MeSH" title="MedGen record for Atypical elliptocytosis">Atypical elliptocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1687045" ref="tree=MeSH" title="MedGen record for Oval macrocytosis">Oval macrocytosis</a></span></li><li><span class="TLline"><a href="/medgen/141708" ref="tree=MeSH" title="MedGen record for Pyropoikilocytosis, hereditary">Pyropoikilocytosis, hereditary</a></span></li><li><span class="TLline"><a href="/medgen/867274" ref="tree=MeSH" title="MedGen record for Red blood cell keratocytosis">Red blood cell keratocytosis</a></span></li><li><span class="TLline"><a href="/medgen/576247" ref="tree=MeSH" title="MedGen record for Schistocytosis">Schistocytosis</a></span></li><li><span class="TLline"><a href="/medgen/807382" ref="tree=MeSH" title="MedGen record for Sickled erythrocytes">Sickled erythrocytes</a></span></li><li><span class="TLline"><a href="/medgen/154301" ref="tree=MeSH" title="MedGen record for Spherocytosis">Spherocytosis</a></span><ul><li><span class="TLline"><a href="/medgen/52450" ref="tree=MeSH" title="MedGen record for Hereditary spherocytosis">Hereditary spherocytosis</a></span></li><li><span class="TLline"><a href="/medgen/870826" ref="tree=MeSH" title="MedGen record for Microspherocytosis">Microspherocytosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/760280" ref="tree=MeSH" title="MedGen record for Stomatocytosis">Stomatocytosis</a></span></li><li><span class="TLline"><a href="/medgen/526211" ref="tree=MeSH" title="MedGen record for Target cells">Target cells</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18552" ref="tree=MeSH" title="MedGen record for Polycythemia">Polycythemia</a></span><ul><li><span class="TLline"><a href="/medgen/45996" ref="tree=MeSH" title="MedGen record for Acquired polycythemia vera">Acquired polycythemia vera</a></span><ul><li><span class="TLline"><a href="/medgen/271322" ref="tree=MeSH" title="MedGen record for Polycythemia Vera, Polycythemic Phase">Polycythemia Vera, Polycythemic Phase</a></span></li><li><span class="TLline"><a href="/medgen/1641083" ref="tree=MeSH" title="MedGen record for Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase">Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/377869" ref="tree=MeSH" title="MedGen record for Increased red blood cell mass">Increased red blood cell mass</a></span></li><li><span class="TLline"><a href="/medgen/1812993" ref="tree=MeSH" title="MedGen record for Multiple paragangliomas associated with polycythemia">Multiple paragangliomas associated with polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163107" ref="tree=MeSH" title="MedGen record for Polycythemia (Excluding Polycythemia Vera)">Polycythemia (Excluding Polycythemia Vera)</a></span><ul><li><span class="TLline"><a href="/medgen/57520" ref="tree=MeSH" title="MedGen record for Familial erythrocytosis">Familial erythrocytosis</a></span></li><li><span class="TLline"><a href="/medgen/78794" ref="tree=MeSH" title="MedGen record for Neonatal polycythemia">Neonatal polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/163545" ref="tree=MeSH" title="MedGen record for Physiological polycythemia">Physiological polycythemia</a></span></li><li><span class="TLline"><a href="/medgen/231144" ref="tree=MeSH" title="MedGen record for Secondary polycythemia">Secondary polycythemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1641215" ref="tree=MeSH" title="MedGen record for Primary familial polycythemia due to EPO receptor mutation">Primary familial polycythemia due to EPO receptor mutation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/526212" ref="tree=MeSH" title="MedGen record for Rouleaux formation">Rouleaux formation</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_82896"><div><strong>Polyagglutinable erythrocyte syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82896</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.">C0272137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000). Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82896">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_902781"><div><strong>Autosomal dominant sideroblastic anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902781</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225428</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902781">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant sideroblastic anemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82896" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyagglutinable erythrocyte syndrome</a></div></div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/29222291">Evolving treatment paradigms in sickle cell disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jagadeeswaran R,
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Rivers A</span><br />
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<span class="medgenPMjournal">Hematology Am Soc Hematol Educ Program</span>
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2017 Dec 8;2017(1):440-446.
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doi: 10.1182/asheducation-2017.1.440.
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<span class="bold">PMID: </span><a href="/pubmed/29222291" target="_blank">29222291</a><a href="/pmc/articles/PMC6142561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28463670">Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Manciu S,
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Matei E,
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Trandafir B</span><br />
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<span class="medgenPMjournal">Chirurgia (Bucur)</span>
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2017 Mar-Apr;112(2):110-116.
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doi: 10.21614/chirurgia.112.2.110.
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<span class="bold">PMID: </span><a href="/pubmed/28463670" target="_blank">28463670</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/22081912">ICSH recommendations for identification, diagnostic value, and quantitation of schistocytes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zini G,
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d'Onofrio G,
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Briggs C,
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Erber W,
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Jou JM,
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Lee SH,
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McFadden S,
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Vives-Corrons JL,
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Yutaka N,
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Lesesve JF;
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International Council for Standardization in Haematology (ICSH)</span><br />
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<span class="medgenPMjournal">Int J Lab Hematol</span>
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2012 Apr;34(2):107-16.
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Epub 2011 Nov 15
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doi: 10.1111/j.1751-553X.2011.01380.x.
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<span class="bold">PMID: </span><a href="/pubmed/22081912" target="_blank">22081912</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20erythrocyte%20morphology)%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 (59)</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/25616368">Association of abnormal erythrocyte morphology with oxidative stress and inflammation in metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gyawali P,
|
||
Richards RS,
|
||
Bwititi PT,
|
||
Nwose EU</span><br />
|
||
<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
||
2015 Apr;54(4):360-3.
|
||
Epub 2015 Jan 17
|
||
doi: 10.1016/j.bcmd.2015.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25616368" target="_blank">25616368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2243297">Folate status assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bailey LB</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
1990 Nov;120 Suppl 11:1508-11.
|
||
doi: 10.1093/jn/120.suppl_11.1508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2243297" target="_blank">2243297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6017542">Thalassemia in Canadians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dauphinee D,
|
||
Langley GR</span><br />
|
||
<span class="medgenPMjournal">Can Med Assoc J</span>
|
||
1967 Feb 11;96(6):309-11.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6017542" target="_blank">6017542</a><a href="/pmc/articles/PMC1935952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20erythrocyte%20morphology%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 (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25616368">Association of abnormal erythrocyte morphology with oxidative stress and inflammation in metabolic syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gyawali P,
|
||
Richards RS,
|
||
Bwititi PT,
|
||
Nwose EU</span><br />
|
||
<span class="medgenPMjournal">Blood Cells Mol Dis</span>
|
||
2015 Apr;54(4):360-3.
|
||
Epub 2015 Jan 17
|
||
doi: 10.1016/j.bcmd.2015.01.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25616368" target="_blank">25616368</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20erythrocyte%20morphology%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 (1)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/9787139">Reversal of lethal alpha- and beta-thalassemias in mice by expression of human embryonic globins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russell JE,
|
||
Liebhaber SA</span><br />
|
||
<span class="medgenPMjournal">Blood</span>
|
||
1998 Nov 1;92(9):3057-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9787139" target="_blank">9787139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2243297">Folate status assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bailey LB</span><br />
|
||
<span class="medgenPMjournal">J Nutr</span>
|
||
1990 Nov;120 Suppl 11:1508-11.
|
||
doi: 10.1093/jn/120.suppl_11.1508.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2243297" target="_blank">2243297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20erythrocyte%20morphology%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12066189">An abundant erythroid protein that stabilizes free alpha-haemoglobin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kihm AJ,
|
||
Kong Y,
|
||
Hong W,
|
||
Russell JE,
|
||
Rouda S,
|
||
Adachi K,
|
||
Simon MC,
|
||
Blobel GA,
|
||
Weiss MJ</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2002 Jun 13;417(6890):758-63.
|
||
doi: 10.1038/nature00803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12066189" target="_blank">12066189</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20erythrocyte%20morphology%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23544085">Conditional deletion of Jak2 reveals an essential role in hematopoiesis throughout mouse ontogeny: implications for Jak2 inhibition in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park SO,
|
||
Wamsley HL,
|
||
Bae K,
|
||
Hu Z,
|
||
Li X,
|
||
Choe SW,
|
||
Slayton WB,
|
||
Oh SP,
|
||
Wagner KU,
|
||
Sayeski PP</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(3):e59675.
|
||
Epub 2013 Mar 27
|
||
doi: 10.1371/journal.pone.0059675.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23544085" target="_blank">23544085</a><a href="/pmc/articles/PMC3609865" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12066189">An abundant erythroid protein that stabilizes free alpha-haemoglobin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kihm AJ,
|
||
Kong Y,
|
||
Hong W,
|
||
Russell JE,
|
||
Rouda S,
|
||
Adachi K,
|
||
Simon MC,
|
||
Blobel GA,
|
||
Weiss MJ</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2002 Jun 13;417(6890):758-63.
|
||
doi: 10.1038/nature00803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12066189" target="_blank">12066189</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11381253">A conserved sorting-associated protein is mutant in chorea-acanthocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rampoldi L,
|
||
Dobson-Stone C,
|
||
Rubio JP,
|
||
Danek A,
|
||
Chalmers RM,
|
||
Wood NW,
|
||
Verellen C,
|
||
Ferrer X,
|
||
Malandrini A,
|
||
Fabrizi GM,
|
||
Brown R,
|
||
Vance J,
|
||
Pericak-Vance M,
|
||
Rudolf G,
|
||
Carrè S,
|
||
Alonso E,
|
||
Manfredi M,
|
||
Németh AH,
|
||
Monaco AP</span><br />
|
||
<span class="medgenPMjournal">Nat Genet</span>
|
||
2001 Jun;28(2):119-20.
|
||
doi: 10.1038/88821.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11381253" target="_blank">11381253</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20erythrocyte%20morphology%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 (3)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" 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=C0391870%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0391870%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0391870%5bDISCUI%5d" target="_blank">See all (2)</a></total></li>
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|
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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="https://clinicaltrials.gov/search?cond=Abnormal%20erythrocyte%20morphology" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(abnormal%20erythrocyte%20morphology)%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></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Abnormal%20erythrocyte%20morphology" target="_blank">MedlinePlus</a></li></ul></div>
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