{"orpha":231222,"name":"Beta-thalassemia intermedia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Beta-NTDT","Non-transfusion dependent beta-thalassemia"],"definition":"Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231222/","orphanet_url":"https://www.orpha.net/en/disease/detail/231222","names":{"fr":{"name":"Bêta-thalassémie intermédiaire","synonyms":["Bêta-thalassémie non dépendante des transfusions","Thalassémie bêta intermédiaire"],"definition":"La bêta-thalassémie (BT) intermédiaire (BTI) est une forme de BT caractérisée par une anémie légère à modérée qui ne nécessite qu'occasionnellement de transfusion. La BT est prévalente dans les pays méditerranéens, le Moyen-Orient, l'Asie Centrale, l'Inde, le sud de la Chine, l'Afrique du Nord et l'Amérique du Sud."},"de":{"name":"Beta-Thalassämie intermedia","synonyms":["Beta-NTDT","Nicht-transfusionsabhängige Beta-Thalassämie"],"definition":"Die Beta-Thalassaemia (BT) intermedia, eine Form der BT ist gekennzeichnet durch milde oder moderate Anämie, die nicht oder nur gelegentlich eine Transfusion erfordert. Die BT ist häufig in den Mittelmeerländern, im Mittleren Osten, Indien, Süd-China, Nordafrika und Südamerika."},"es":{"name":"Beta-talasemia intermedia","synonyms":["TNDT-Beta","Talasemia no dependiente de transfusión Beta"],"definition":"La beta-talasemia intermedia (BTI) es una forma de talasemia (ver este término) caracterizada por una anemia leve o moderada que prácticamente nunca requiere transfusión."},"it":{"name":"Beta talassemia intermedia","synonyms":["Beta-NTDT","Beta-talassemia non trasfuzionale"],"definition":"La beta talassemia (BT) intermedia è una forma di BT con anemia lieve-moderata, che richiede trasfusioni occasionali."},"nl":{"name":"Beta-thalassemia intermedia","synonyms":["Bèta-NTDT","Intermediaire bèta-thalassemie","Transfusieonafhankelijke bèta-thalassemie"],"definition":"Een vorm van bèta-thalassemie (BT), gekenmerkt door milde tot matige anemie die geen of slechts occasioneel transfusie vereist."},"pt":{"name":"Beta-talassemia intermédia","synonyms":["Beta-NTDT","Beta-talassemia não-dependente de transfusão"],"definition":"A beta-talassemia (BT) intermedia é uma forma de BT (ver este termo) caracterizada por anemia ligeira a moderada que nãonecessita ou apenas ocasionalmente requer transfusão."},"pl":{"name":"Beta-talasemia pośrednia","synonyms":["Beta-NTDT","Non-transfusion dependent beta-thalassemia"]},"cs":{"name":"Beta-talasémie intermedia","synonyms":["Beta-NTDT","Non-transfusion dependent beta-thalassemia"]},"uk":{"name":"Бета-таласемія інтермедіальна","definition":"Beta-thalassemia (BT) intermedia is a form of BT (see this term) characterized by mild to moderate anemia which does not or only occasionally requires transfusion."},"zh":{"name":"β-地中海贫血中间型","definition":"中间型β地中海贫血（BT）是一种BT（见该词条），其特征是轻度至中度贫血，不需要或仅偶尔需要输血。"},"tr":{"name":"Beta-talasemi intermedia"}},"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":"1947619935"},{"source":"MONDO","code":"0016487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0472767","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062923","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":["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":"2020-01-31","source":"29458726[PMID]_27811859[PMID]_29380178[PMID]_20098328[PMID]","terms":[{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025066","label":"Decreased mean corpuscular volume","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011904","label":"Persistence of hemoglobin F","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012132","label":"Erythroid hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001978","label":"Extramedullary hematopoiesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045048","label":"Increased HbA2 hemoglobin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012465","label":"Elevated hepatic iron concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","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:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000114","label":"Proximal tubulopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very rare (<4-1%)","criteria":null}]}}