{"orpha":231214,"name":"Beta-thalassemia major","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta transfusion dependent thalassemia","Beta-TDT","Cooley anemia","Mediterranean anemia"],"definition":"Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231214/","orphanet_url":"https://www.orpha.net/en/disease/detail/231214","names":{"fr":{"name":"Bêta-thalassémie majeure","synonyms":["Anémie de Cooley","Anémie méditerranéenne","Beta-thalassémie dépendante des transfusions","Thalassémie bêta majeure"],"definition":"La bêta-thalassémie (BT) majeure est une forme sévère et précoce de BT caractérisée par une anémie nécessitant des transfusions régulières d'hématies."},"de":{"name":"Beta-Thalassämie major","synonyms":["Beta-TDT","Cooley-Anämie","Mittelmeeranämie","Transfusionsabhängige Beta-Thalassämie"],"definition":"Die Beta-Thalassaemia (BT) major, eine schwere, früh manifeste Form der BT, ist gekennzeichnet durch schwere Anämie, die regelmäßige Transfusionen von Erythrozyten erfordert."},"es":{"name":"Beta-talasemia mayor","synonyms":["Anemia de Cooley","Anemia mediterránea","Beta talasemia dependiente de transfusiones","TDT-Beta"],"definition":"La beta-talasemia mayor (BTM) es una forma grave de talasemia por déficit de cadenas beta de globina y se caracteriza por una anemia intensa que requiere transfusiones periódicas de glóbulos rojos."},"it":{"name":"Beta-talassemia major","synonyms":["Beta-TDT","Anemia di Cooley","Anemia mediterranea"],"definition":"La beta talassemia (BT) major è una grave forma di BT a esordio precoce con grave anemia, che richiede regolari emotrasfusioni."},"nl":{"name":"Beta-thalassemia major","synonyms":["Bèta-TDT","Cooley-anemie","Ernstige bèta-thalassemie","Mediterrane anemie","Transfusieafhankelijke bèta-thalassemie"],"definition":"Een ernstige, vroeg optredende vorm van bèta-thalassemie (BT), gekenmerkt door ernstige anemie die regelmatige transfusies van rode bloedcellen vereist."},"pt":{"name":"Beta-talassemia major","synonyms":["Beta-TDT","Anemia mediterrânica","Beta-talassemia dependente de transfusão","Anemia Cooley"],"definition":"A beta-talassemia (BT) major é uma forma de BT de início precoce grave (ver este termo) caracterizada por anemia grave, necessitando de transfusões regulares de glóbulos vermelhos."},"pl":{"name":"Beta-talasemia ciężka","synonyms":["Niedokrwistość Cooley'a","Niedokrwistość śródziemnomorska"]},"cs":{"name":"Beta-talasémie major","synonyms":["Cooleyova talasémie","Středomořská anémie"]},"uk":{"name":"Бета-таласемія мажорна","synonyms":["Анемія Кулі","Середземноморська анемія"],"definition":"Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions."},"zh":{"name":"β-地中海贫血重型","synonyms":["地中海贫血"],"definition":"重型β地中海贫血（BT）是一种严重的早发性BT（见该词条），其特征是严重贫血，需要定期输注红细胞。"},"tr":{"name":"Beta-talasemi majör","synonyms":["Cooley anemisi","Akdeniz anemisi"]}},"xrefs":[{"source":"OMIM","code":"613985","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1583088290"},{"source":"MONDO","code":"0016486","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002875","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":848,"name":"Beta-thalassemia","classifications":[156,188,193,194,233]}],"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":["Infancy","Neonatal"],"prevalence":[{"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 / 1 000 000","value":0.7,"area":"United States","status":"Validated","source":"22766612[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":160.0,"area":"Bahrain","status":"Validated","source":"24044606[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Oman","status":"Validated","source":"11360093[PMID]_12934793[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-28","source":"20301599[PMID]_27811859[PMID]","terms":[{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004823","label":"Anisopoikilocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025547","label":"Decreased mean corpuscular hemoglobin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic 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:0011905","label":"Reduced hemoglobin A","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001971","label":"Hypersplenism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001722","label":"High-output congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","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:0001954","label":"Recurrent fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}