{"orpha":231249,"name":"Hemoglobin E-beta-thalassemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["E-beta-thalassemia","HbE-beta-thalassemia syndrome"],"definition":"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231249/","orphanet_url":"https://www.orpha.net/en/disease/detail/231249","names":{"fr":{"name":"Hémoglobine E-bêta-thalassémie","synonyms":["E-bêta-thalassémie","HbE-bêta-thalassémie","Thalassémie bêta-HbE","Thalassémie bêta-hémoglobine E"],"definition":"L'hémoglobine E - bêta-thalassémie (HbE-BT) est une forme de bêta-thalassémie (BT) qui présente un tableau clinique léger à sévère, depuis un état indistinguable de la BT majeure à une forme légère de BT intermédiaire."},"de":{"name":"Hämoglobin E-Beta-Thalassämie-Syndrom","synonyms":["HbE-Beta-Thalassämie-Syndrom"],"definition":"Die Hämoglobin E - Beta-Thalassämie (HbE - BT), eine Form der Beta-Thalassämie (s. dort), ist gekennzeichnet durch milde bis schwere Symptome, die vom klinischen Bild einer Beta-Thalassaemia intermedia und einer Beta-Thalassaemia major (s. diese Termini) nicht zu unterscheiden sind."},"es":{"name":"Síndrome de hemoglobina E-beta-talasemia","synonyms":["E-beta-talasemia","Síndrome de HbE-beta-talasemia"],"definition":"La hemoglobina E - beta-talasemia (HbE - BT) es una forma de BT (ver este término) que cursa con un cuadro clínico que varía desde una situación idéntica a la de la BT mayor (BTM) a una forma leve de BT intermedia (BTI) (ver estos términos)."},"it":{"name":"Sindrome emoglobina E - beta talassemia","synonyms":["E-beta talassemia","Sindrome HbE-beta talassemia"],"definition":"L'emoglobina E-beta-talassemia (HbE- BT) è una forma di beta talassemia (si veda questo termine), caratterizzata da un quadro clinico lieve-grave, che varia da una condizione non distinguibile dalla beta talassemia major ad una forma lieve di BT intermedia (si vedano questi termini)."},"nl":{"name":"Hemoglobine E - bèta-thalassemie-syndroom","synonyms":["E-bèta-thalassemie","HbE - bèta-thalassemie-syndroom"],"definition":"Een vorm van bèta-thalassemie die resulteert in een milde tot ernstige klinische presentatie, gaande van een aandoening die niet te onderscheiden valt van bèta-thalassemie major tot een milde vorm van bèta-thalassemie intermedia."},"pt":{"name":"Síndrome hemoglobina E-talassemia beta","definition":"A síndrome de hemoglobina E-beta-talassemia (HbE-BT) é uma forma de beta-talassemia (ver este termo) que resulta numa apresentação clínica ligeira a grave, variando desde uma patologia indistinguível de beta-talassemia major até uma forma ligeira de beta-talassemia intermédia (ver estes termos)."},"pl":{"name":"Zespół beta-talasemii z hemoglobiną E","synonyms":["E-beta-talasemia","HbE - beta-talasemia"]},"cs":{"name":"Syndrom hemoglobinu E s beta-talasémií","synonyms":["E-beta-talasémie","HbE/beta-talasémie"]},"uk":{"name":"Синдром гемоглобінової Е-бета-таласемії","synonyms":["Е-бета-таласемія","Синдром HbE-бета-таласемії"],"definition":"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms)."},"zh":{"name":"血红蛋白E-β-地中海贫血综合征","synonyms":["血红蛋白E-β-地中海贫血综合征"],"definition":"血红蛋白E-β地中海贫血（HbE-BT）是一种β地中海贫血（见该词条），可出现轻度至重度临床表现，包括从重度β地中海贫血到轻度β地中海贫血（见这些词条），无法区分。"},"tr":{"name":"Hemoglobin E-beta-talasemi sendromu","synonyms":["E-beta-talasemi","HbE-beta-talasemi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"374273880"},{"source":"MONDO","code":"0016491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":231230,"name":"Beta-thalassemia associated with another hemoglobin anomaly","classifications":[156,194,233]}],"children":[{"orpha":715125,"name":"Hemoglobin E-beta-thalassemia intermedia","type":"Clinical subtype"},{"orpha":715128,"name":"Hemoglobin E-beta-thalassemia major","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":715125,"name":"Hemoglobin E-beta-thalassemia intermedia"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15481886[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":715128,"name":"Hemoglobin E-beta-thalassemia major"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21886666[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":715128,"name":"Hemoglobin E-beta-thalassemia major"}}],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Frequent (79-30%)","criteria":null}]}}