{"orpha":2133,"name":"Hemoglobin E disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2133/","orphanet_url":"https://www.orpha.net/en/disease/detail/2133","names":{"fr":{"name":"Hémoglobinose E","definition":"L'hémoglobinose E est une hémoglobinopathie caractérisée par la production d'une variante anormale d'hémoglobine connue sous le nom d'hémoglobine E, avec une présentation généralement bénigne et asymptomatique."},"de":{"name":"Hämoglobin-E-Krankheit"},"es":{"name":"Hemoglobinosis E","definition":"La enfermedad de la hemoglobina E (HbE) es una hemoglobinopatía caracterizada por la producción de una variante anómala de la hemoglobina conocida como hemoglobina E, con una presentación generalmente benigna y asintomática."},"it":{"name":"Emoglobinopatia E"},"nl":{"name":"Hemoglobine E-ziekte","definition":"Hemoglobine E-ziekte (HbE) is een hemoglobinopathie die gekenmerkt wordt door de productie van een abnormale hemoglobinevariant, bekend als hemoglobine E, met een in het algemeen goedaardige, asymptomatische presentatie."},"pt":{"name":"Doença de hemoglobina E"},"pl":{"name":"Choroba hemoglobiny E"},"cs":{"name":"Hemoglobinopatie s hemoglobinem E"},"uk":{"name":"Хвороба гемоглобіну Е","definition":"Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation."},"zh":{"name":"血红蛋白E病"},"tr":{"name":"Hemoglobin E hastalığı"}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.A","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1898135714"},{"source":"MONDO","code":"0016243","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238159","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2641","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053215","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":707786,"name":"Thalassemia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21886666[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-25","source":"27456306[PMID]_17654063[PMID]_21886666[PMID]","terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032231","label":"Hypochromia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020059","label":"Increased red blood cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011905","label":"Reduced hemoglobin A","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004817","label":"Drug-sensitive hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005546","label":"Increased red cell osmotic resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Very rare (<4-1%)","criteria":null}]}}