{"orpha":846,"name":"Alpha-thalassemia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-846/","orphanet_url":"https://www.orpha.net/en/disease/detail/846","names":{"fr":{"name":"Alpha-thalassémie","synonyms":["Thalassémie alpha"],"definition":"Hémoglobinopathie héréditaire rare caractérisée par un défaut de synthèse de deux à quatre chaînes de globines alpha entraînant un tableau clinique variable selon le nombre d'allèles affectés."},"de":{"name":"Alpha-Thalassämie","definition":"Eine seltene vererbte Hämoglobinopathie, die durch eine beeinträchtigte Synthese der Alpha-Globin-Ketten gekennzeichnet ist, was zu einem variablen klinischen Bild je nach Zahl der betroffenen Allele führt."},"es":{"name":"Alfa talasemia","definition":"Es una hemoglobinopatía hereditaria poco frecuente caracterizada por una alteración de la síntesis de las dos a cuatro cadenas de globina-alfa, que conduce a un cuadro clínico variable según el número de alelos afectados."},"it":{"name":"Alfa talassemia","definition":"L'alfa talassemia è un'emoglobinopatia ereditaria rara, caratterizzata da un difetto della sintesi di due delle catene dell'alfa-globina, che esita in un quadro clinico variabile a seconda del numero degli alleli affetti."},"nl":{"name":"Alfa-thalassemie","definition":"Een zeldzame erfelijke hemoglobinopathie, gekenmerkt door verstoorde synthese van twee tot alle vier de alfa-globineketens, wat leidt tot een variabel klinisch beeld afhankelijk van het aantal aangetaste allelen."},"pt":{"name":"Alfa-talassemia","definition":"Hemoglobinopatia hereditária rara caracterizada pelo comprometimento da síntese de duas a quatro cadeias de alfa-globina, levando a um quadro clínico variável que depende do número de alelos afetados."},"pl":{"name":"Talasemia alfa","definition":"Rzadka dziedziczna hemoglobinopatia charakteryzująca się upośledzoną syntezą dwóch do wszystkich czterech łańcuchów alfa-globiny, co prowadzi do zróżnicowanego obrazu klinicznego w zależności od liczby nieprawidłowych alleli."},"cs":{"name":"Alfa-talasemie"},"uk":{"name":"Альфа-таласемія","definition":"A rare inherited hemoglobinopathy characterized by impaired synthesis of two to all four alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles."},"zh":{"name":"α-地中海贫血"},"tr":{"name":"Alfa-talasemi"}},"xrefs":[{"source":"OMIM","code":"604131","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A50.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"531667506"},{"source":"MONDO","code":"0011399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002312","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275745,"name":"Alpha-thalassemia and related disorders","classifications":[156,194,233]},{"orpha":93614,"name":"Hematological disorder with renal involvement","classifications":[156]}],"children":[{"orpha":163596,"name":"Hemoglobin Bart's fetalis syndrome","type":"Disease"},{"orpha":93616,"name":"Hemoglobin H disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.3,"area":"United States","status":"Validated","source":"19061217[PMID]_22766612[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"25390741[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-21","source":"20301608[PMID]","terms":[{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004823","label":"Anisopoikilocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005507","label":"Hemoglobin Barts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001878","label":"Hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010620","label":"Malar prominence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002863","label":"Myelodysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}