{"orpha":231242,"name":"Hemoglobin C-beta-thalassemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["C-beta-thalassemia","HbC-beta-thalassemia syndrome"],"definition":"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231242/","orphanet_url":"https://www.orpha.net/en/disease/detail/231242","names":{"fr":{"name":"Hémoglobine C-bêta-thalassémie","synonyms":["Thalassémie bêta-hémoglobine C","C-bêta-thalassémie","HbC-bêta-thalassémie","Thalassémie bêta-HbC"],"definition":"L'hémoglobine C - bêta-thalassémie (HbC-BT) est une forme de bêta-thalassémie (BT) qui résulte en une anémie hémolytique modérée."},"de":{"name":"Hämoglobin C-beta-Thalassämie-Syndrom","synonyms":["C-Beta-Thalassämie","HbC - Beta-Thalassämie"],"definition":"Die Hämoglobin C - Beta-Thalassämie (HbC-BT), eine Form der Beta-Thalassämie, ist gekennzeichnet durch moderate hämolytische Anämie."},"es":{"name":"Síndrome de hemoglobina C-beta-talasemia","synonyms":["C-beta-talasemia","HbC-beta-talasemia"],"definition":"La hemoglobina C - beta-talasemia (HBC - BT) es una forma de BT (ver este término) que da lugar a una anemia hemolítica leve o moderada."},"it":{"name":"Emoglobina C - beta talassemia","synonyms":["C- beta talassemia","HbC - beta talassemia"],"definition":"L'emoglobina C-beta talassemia (HbC-BT) è una forma di beta talassemia (si veda questo termine), caratterizzata da modesta anemia emolitica."},"nl":{"name":"Hemoglobine C - bèta-thalassemie-syndroom","synonyms":["C - bèta-thalassemie","HbC - bèta-thalassemie-syndroom"],"definition":"Een vorm van bèta-thalassemie, resulterend in matige hemolytische anemie."},"pt":{"name":"Síndrome hemoglobina C-talassemia beta","definition":"A hemoglobina C-beta-talassemia (HbC-BT) é uma forma de beta-talassemia (ver este termo) que resulta numa anemia hemolítica moderada."},"pl":{"name":"Hemoglobina C - beta-talasemia","synonyms":["C- beta-talasemia","HbC - beta-talasemia"]},"cs":{"name":"Syndrom hemoglobinu C s beta-talasémií","synonyms":["C-beta-talasémie","HbC/beta-talasémie"]},"uk":{"name":"Синдром гемоглобінової С-бета-таласемії","synonyms":["С-бета-таласемія","Синдром HbC-бета-таласемії"],"definition":"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia."},"zh":{"name":"血红蛋白C-β-地中海贫血综合征","synonyms":["血红蛋白C-β-地中海贫血综合征"],"definition":"血红蛋白C-β地中海贫血（HbC-BT）是一种β地中海贫血见该词条），导致中度溶血性贫血。"},"tr":{"name":"Hemoglobin C-beta-talasemi sendromu","synonyms":["C-beta-talasemi","HbC-beta-talasemi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"348138145"},{"source":"MONDO","code":"0016490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221020","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":[],"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":["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:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}