{"orpha":848,"name":"Beta-thalassemia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-848/","orphanet_url":"https://www.orpha.net/en/disease/detail/848","names":{"fr":{"name":"Bêta-thalassémie","synonyms":["Thalassémie bêta"],"definition":"La bêta-thalassémie (BT) est caractérisée par un déficit total (Bêta0) ou partiel (Bêta+) de synthèse des chaînes de bêta-globine de l'hémoglobine (Hb)."},"de":{"name":"Beta-Thalassämie","definition":"Die Beta-Thalassämie (BT) ist gekennzeichnet durch mangelhafte (B+) oder fehlende (B-) Synthese der Beta-Globinkette des Hämoglobins (Hb)."},"es":{"name":"Beta-talasemia","definition":"La beta-talasemia (BT) se caracteriza por la deficiencia (Beta+) o ausencia (Beta0) de la síntesis de las cadenas de beta globina de la hemoglobina (Hb)."},"it":{"name":"Beta talassemia"},"nl":{"name":"Bèta-thalassemie","definition":"Bèta-thalassemie (BT) wordt gekarakteriseerd door deficiëntie (Bèta+) of afwezigheid (Bèta0) van de synthese van de bèta-globineketens van hemoglobine (Hb)."},"pt":{"name":"Beta-talassemia","synonyms":["Anemia de Cooley"],"definition":"A beta-talassemia (BT) é caraterizada por deficiência (Beta+) ou ausência (Beta0) da síntese das cadeias de beta globulina da proteína hemoglobina (Hb)."},"pl":{"name":"Talasemia beta","definition":"Beta-talasemia (BT) charakteryzuje się niedoborem (Beta+) lub brakiem (Beta0) syntezy łańcuchów beta globiny w hemoglobinie (Hb)."},"cs":{"name":"Beta-talasemie"},"uk":{"name":"Бета-таласемія","definition":"Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb)."},"zh":{"name":"β-地中海贫血"},"tr":{"name":"Beta-talasemi"}},"xrefs":[{"source":"OMIM","code":"603902","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613985","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2063292324"},{"source":"MONDO","code":"0019402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19402","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017086","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0005283","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043391","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]},{"orpha":93614,"name":"Hematological disorder with renal involvement","classifications":[156,188]},{"orpha":95618,"name":"Pituitary hormone deficiency secondary to storage disease","classifications":[193]}],"children":[{"orpha":231222,"name":"Beta-thalassemia intermedia","type":"Disease"},{"orpha":231214,"name":"Beta-thalassemia major","type":"Disease"},{"orpha":715143,"name":"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"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:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011031","label":"Abnormality of iron homeostasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004370","label":"Abnormality of temperature regulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}