{"orpha":163596,"name":"Hemoglobin Bart's fetalis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HBHF","Haemoglobin Bart's disease","Haemoglobin Bart's hydrops fetalis","Hb Bart's hydrops fetalis syndrome","Hemoglobin Bart's disease","Hemoglobin Bart's hydrops fetalis","Homozygous alpha0-thalassemia","Alpha-thalassemia hydrops fetalis","Alpha-thalassemia major","BHFS"],"definition":"A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163596/","orphanet_url":"https://www.orpha.net/en/disease/detail/163596","names":{"fr":{"name":"Hydrops fetalis de Bart","synonyms":["Alpha-thalassémie majeure","Anasarque foetoplacentaire de Bart","Anasarque foetoplacentaire liée à l'hémoglobine Bart","Hémoglobinose de Bart","Thalassémie alpha majeure"],"definition":"Forme sévère de l'alpha-thalassémie, le plus souvent létale, associée à une issue fatale à long terme et à des transfusions à vie chez les survivants. Elle est caractérisée par l'apparition au stade foetal d'un oedème généralisé, d'épanchements pleuraux et péricardiques, ainsi que par une anémie hypochrome sévère."},"de":{"name":"Hb-Bart´s Hydrops fetalis-Syndrom","synonyms":["Alpha-Thalassämie Hydrops fetalis","Alpha-Thalassämie major","Alpha0-Thalassämie, homozygote","BHFS","HBHF","Hb-Bart-Syndrom","Hb-Barts","Hydrops fetalis Bart","Hämoglobin Barts"],"definition":"Eine schwere Form der Alpha-Thalassämie, die zumeist letal verläuft und bei den Überlebenden mit schweren Langzeitfolgen und lebenslangen Transfusionen verbunden ist. Kennzeichnend sind in der fötalen Phase beginnendes generalisiertes Ödem, Pleura- und Perikardergüsse und schwere hypochrome Anämie."},"es":{"name":"Hidropesía fetal con Hb de Bart","synonyms":["Alfa-talasemia mayor","BHFS","Enfermedad de Bart por hemoglobina","HBHF","Hidropesía fetal por alfa-talasemia","Hidropesía fetal por hemoglobina de Bart","Síndrome de hidropesía fetal por Hb de Bart","Talasemia alfa-0 homocigótica"],"definition":"Es una forma grave de alfa-talasemia que en su mayoría es letal y se asocia con un pronóstico desfavorable a largo plazo y a transfusiones de por vida en los supervivientes. Se caracteriza por la aparición fetal de edema generalizado, derrames pleurales y pericárdicos y anemia hipocrómica grave."},"it":{"name":"Sindrome fetale da emoglobina di Bart","synonyms":["Alfa talassemia-idrope fetale","BHFS","Malattia dell’emoglobina di Bart","Sindrome idrope fetale da emoglobina di Bart","Idrope fetale da emoglobina di Bart","Emoglobinopatia di Bart","Alfa0-talassemia omozigote","Alfa-talassemia idrope fetale","Alfa-talassemia major","HBHF","Idrope fetale da Hb di Bart"],"definition":"Si tratta di una forma grave, quasi sempre letale, di alfa talassemia, che si associa, nei pazienti che sopravvivono, ad esiti a lungo termine gravi e alla necessità di trasfusioni per tutta la vita. È caratterizzata da edema generalizzato ad esordio prenatale, versamento pleurico e pericardico, e anemia ipocromica grave."},"nl":{"name":"Hemoglobine Bart's hydrops foetalis-syndroom","synonyms":["Alfa-thalassemie - hydrops foetalis","Alfa-thalassemie major","BHFS","HBHF","Hb-Bart's hydrops foetalis","Hemoglobine Bart's hydrops foetalis","Hemoglobine Bart's ziekte","Homozygote alfa-0-thalassemie"],"definition":"Een ernstige vorm van alfa-thalassemie die meestal letaal is, en geassocieerd is met een ernstige uitkomst op lange termijn en levenslang transfusie bij overlevers. De aandoening wordt gekenmerkt door foetale aanvang van gegeneraliseerd oedeem, pleurale en pericardiale effusies, en ernstige hypochrome anemie."},"pt":{"name":"Síndrome fetal de hemoglobina Bart","synonyms":["HBHF","Hidropsia fetal alfa-talassémia","Hidrópsia fetal de Bart","Hidrópsia fetal de hemoglobina Bart","Homozigosidade alfa0-talassémia","Síndrome de hidrópsia fetal de hemoglobina Bart","Síndrome de hidrópsia fetal Hb Bart","Alfa-talassémia major","BHFS","Doença de hemoglobina Bart"],"definition":"Uma forma grave de alfa-talassemia que habitualmente é fatal e está associada frequentemente a transfusões ao longo da vida com complicações a longo prazo nos sobreviventes. Caracteriza-se por edema generalizado, derrame pleural e pericárdico e anemia hipocrómica grave no período fetal."},"pl":{"name":"Zespół płodowy hemoglobiny Barta","synonyms":["Alfa-talasemia ciężka","Alfa-talasemia homozygotyczna","Alfa-talasemia obrzęk płodu","Hemoglobina Barta obrzęk płodu"]},"cs":{"name":"Alfa-talasemie major","synonyms":["Alfa-talasemie hydrops fetalis","Hb Bart's hydrops fetalis","Hemoglobin Bart’s hydrops fetalis","Homozygotní alfa talasemie","Hb Bartův fetální hydropsový syndrom","Hb Bartův hydrops fetalis","Hemoglobin Bartův hydrops fetalis"]},"uk":{"name":"Гемоглобінова водянка плода Барта","synonyms":["Альфа-таласемія hydrops fetalis","Альфа-таласемія поширена","Гемоглобін Барта - hydrops fetalis","Гомозиготна альфа0-таласемія"],"definition":"A severe form of alpha-thalassemia that is mostly lethal, and associated with severe long-term outcome and lifelong transfusions in survivors. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia."},"zh":{"name":"HbBart's 胎儿水肿综合征","synonyms":["血红蛋白Bart's胎儿水肿"],"definition":"一种罕见的重型α-地中海贫血，易致死。该病的特征是胎儿起病的全身性水肿，胸膜和心包积液以及严重的低色素性贫血。"},"tr":{"name":"Hb Bart hidrops fetalisi","synonyms":["Alfa talasemi majör","Homozigot alfa0-talasemi","Alfa talasemi hidrops fetalis","Hemoglobin Bart'ın hidrops fetalisi"]}},"xrefs":[{"source":"OMIM","code":"236750","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1859849042"},{"source":"MONDO","code":"0015579","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272005","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]}],"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":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":275.0,"area":"South East Asia","status":"Validated","source":"19459517[PMID]_2351917[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.6,"area":"United States","status":"Validated","source":"21167500[PMID]"}],"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:0001635","label":"Congestive heart failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null}]}}