{"orpha":93616,"name":"Hemoglobin H disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha-thalassemia intermedia","HbH disease"],"definition":"An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93616/","orphanet_url":"https://www.orpha.net/en/disease/detail/93616","names":{"fr":{"name":"Hémoglobinose H","synonyms":["Maladie HbH","Thalassémie alpha intermédiaire","Alpha-thalassémie intermédiaire"],"definition":"Forme intermédiaire d'alpha-thalassémie caractérisée par une hémolyse prononcée et une anémie légère à sévère avec une microcytose et une hypochromie marquées. L'hémoglobinose H (HbH) appartient au groupe des thalassémies non dépendantes de la transfusion."},"de":{"name":"Hämoglobin-H-Krankheit","synonyms":["Alpha-Thalassämie, intermediäre","HbH-Krankheit"],"definition":"Eine intermediäre Form der Alpha-Thalassämie, die durch erhöhte Hämolyse und leichte bis schwere Anämie mit ausgeprägter Mikrozytose und Hypochromie gekennzeichnet ist. Die Hämoglobin H Krankheit (HbH-Krankheit) gehört zur Gruppe der Nicht-Transfusions-abhängigen Thalassämien."},"es":{"name":"Enfermedad de la hemoglobina H","synonyms":["Alfa-talasemia intermedia","Enfermedad de la HbH"],"definition":"Es una forma intermedia de alfa-talasemia caracterizada por un aumento de la hemólisis y anemia de leve a grave con marcada microcitosis e hipocromía. La enfermedad de la hemoglobina H (HbH) pertenece al grupo de talasemias no dependientes de transfusiones."},"it":{"name":"Emoglobinopatia H","synonyms":["Alfa talassemia intermedia","Malattia dell'HbH"],"definition":"L'emoglobinopatia H (HbH) è una forma intermedia di alfa talassemia, caratterizzata da un aumento dell'emolisi e anemia lieve-grave, con marcata microcitosi e ipocromia. La malattia rientra nel gruppo delle talassemie non dipendenti dalle trasfusioni."},"nl":{"name":"Hemoglobine H-ziekte","synonyms":["HbH-ziekte","Intermediaire alfa-thalassemie"],"definition":"Een intermediaire vorm van alfa-thalassemie, gekenmerkt door verhoogde hemolyse en milde tot ernstige anemie met opmerkelijke microcytose en hypochromie. Hemoglobine H-ziekte (HbH) behoort tot de groep van niet-transfusieafhankelijke thalassemie."},"pt":{"name":"Doença da hemoglobina H","definition":"Forma intermédia de alfa-talassemia caracterizada por aumento da hemólise e anemia ligeira a grave com marcada microcitose e hipocromia. A doença da hemoglobina H (HbH) pertence ao grupo das talassemias não dependentes de transfusão."},"pl":{"name":"Choroba hemoglobiny H","synonyms":["Alfa talasemia pośrednia","Choroba HbH"]},"cs":{"name":"Nemoc hemoglobinu H","synonyms":["Alpha-thalasemia intermedia","HbH nemoc"]},"uk":{"name":"Хвороба гемоглобіну Н","synonyms":["Альфа-таласемія інтермедіальна","Хвороба HbH"],"definition":"An intermediate form of alpha-thalassemia characterized by increased hemolysis and mild to severe anemia with marked microcytosis and hypochromia. Hemoglobin H disease (HbH) disease belongs to the group of nontransfusion-dependent thalassemia."},"zh":{"name":"血红蛋白H病","synonyms":["中间型α-地中海贫血"],"definition":"血红蛋白H型（HbH）病是一种中度至重度α地中海贫血（见该词条），其特征是显著的小细胞低色素溶血性贫血。"},"tr":{"name":"Hemoglobin H hastalığı","synonyms":["HbH hastalığı","Alfa talasemi intermedia"]}},"xrefs":[{"source":"OMIM","code":"613978","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"9436211"},{"source":"MONDO","code":"0013512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3161174","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063435","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":846,"name":"Alpha-thalassemia","classifications":[156,194,233]},{"orpha":95618,"name":"Pituitary hormone deficiency secondary to storage disease","classifications":[193]}],"children":[],"genes":[{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.7,"area":"United States","status":"Not yet validated","source":"21167500[PMID]_22766612[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"United States","status":"Validated","source":"21167500[PMID]_[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":">1 / 1000","value":1200.0,"area":"South East Asia","status":"Not yet validated","source":"20301608[PMID]_ORPHANET"}],"phenotypes":null}