{"orpha":46532,"name":"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HPFH-beta-thalassemia syndrome"],"definition":"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46532/","orphanet_url":"https://www.orpha.net/en/disease/detail/46532","names":{"fr":{"name":"Syndrome de persistance familiale de l'hémoglobine foetale-bêta-thalassémie","synonyms":["HPFH-bêta-thalassémie"],"definition":"La persistance héréditaire d'hémoglobine foetale (PHHF) associée à une bêta-thalassémie (BT) est caractérisée par un taux élevé d'hémoglobine (Hb) foetale (HbF) et un grand nombre de cellules contenant de l'HbF."},"de":{"name":"Hereditäre Persistenz des fetalen Hämoglobins - beta-Thalassämie","synonyms":["HPFH - beta-Thalassämie"],"definition":"Die Hereditäre Persistenz des fetalen Hämoglobins (HPFH) in Verbindung mit Beta-Thalassämie (s. dort) ist gekennzeichnet durch hohe Spiegel von Hämoglobin (Hb) F und erhöhte Zahl HbF-haltiger Zellen."},"es":{"name":"Síndrome de persistencia hereditaria de hemoglobina fetal-beta-talasemia","synonyms":["HPFH-beta-talasemia"],"definition":"La persistencia hereditaria de hemoglobina fetal (PHHF) asociada con la BT (ver este término) se caracteriza por una elevada concentracion de Hb F, y un elevado número de hematies con Hb fetal."},"it":{"name":"Persistenza ereditaria di emoglobina fetale - beta talassemia","synonyms":["HPFH - beta talassemia"]},"nl":{"name":"Hereditaire persistentie van foetaal hemoglobine - bèta-thalassemie-syndroom","synonyms":["HPFH - bèta-thalassemie-syndroom"],"definition":"Hereditaire persistentie van foetaal hemoglobine (HPFH) geassocieerd met bèta-thalassemie wordt gekenmerkt door hoge gehaltes van hemoglobine (Hb) F en verhoogd aantal cellen die foetaal Hb bevatten."},"pt":{"name":"Síndrome de persistência hereditária de hemoglobina fetal-beta-talassémia","synonyms":["Síndrome HPFH-beta-talassémia"],"definition":"A persistência hereditária da hemoglobina fetal (HPFH) associada à beta-talassemia (ver este termo) é caracterizada por níveis elevados de hemoglobina (Hb) F e um número aumentado de células contendo Hb fetal."},"pl":{"name":"Zespół dziedzicznego przetrwania hemoglobiny płodowej - beta-talasemia","synonyms":["HPFH - beta-talasemia"]},"cs":{"name":"Syndrom zahrnující dědičnou perzistenci fetálního hemoglobinu a beta-talasémii","synonyms":["Syndrom zahrnující HPFH a beta-talasémii"]},"uk":{"name":"Спадкова персистенція синдрому фетальної гемоглобін-бета-таласемії","synonyms":["Синдром HPFH-бета-таласемії"],"definition":"Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells."},"zh":{"name":"遗传性持续性胎儿血红蛋白综合征复合β地中海贫血综合征","synonyms":["HPFH-β地中海贫血综合征"]},"tr":{"name":"Kalıtsal persistans fetal hemoglobin-beta-talasemi sendromu","synonyms":["HPFH-beta-talasemi sendromu"]}},"xrefs":[{"source":"OMIM","code":"141749","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"142335","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"142470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"305435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613566","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"418601307"},{"source":"MONDO","code":"0018749","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271994","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275749,"name":"Beta-thalassemia and related disorders","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":"19050890[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]},{"symbol":"HBG1","name":"hemoglobin subunit gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"6210198[PMID]_24144231[PMID]","hgnc":"4831","ensembl":"ENSG00000213934","omim":"142200","loci":["11p15.4"]},{"symbol":"HBG2","name":"hemoglobin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19050890[PMID]_24144231[PMID]_25435729[PMID]","hgnc":"4832","ensembl":"ENSG00000196565","omim":"142250","loci":["11p15.4"]},{"symbol":"KLF1","name":"KLF transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20676099[PMID]","hgnc":"6345","ensembl":"ENSG00000105610","omim":"600599","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"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:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011904","label":"Persistence of hemoglobin F","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003330","label":"Abnormal bone structure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}