{"orpha":231237,"name":"Delta-beta-thalassemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231237/","orphanet_url":"https://www.orpha.net/en/disease/detail/231237","names":{"fr":{"name":"Delta-bêta-thalassémie","synonyms":["Thalassémie delta-bêta"],"definition":"La delta-bêta thalassémie est une forme de bêta-thalassémie (BT) caractérisée par une synthèse diminuée ou nulle des chaînes de delta- et bêta-globine et une augmentation compensatoire de l'expression de la gamma-globine foetale."},"de":{"name":"Delta-beta-Thalassämie","definition":"Die Delta-Beta-Thalassämie, eine Form der Beta-Thalassänie, ist gekennzeichnet durch verminderte oder fehlende Synthese der Delta- und Beta-Globinketten mit kompensatorisch erhöhter Synthese der fetalen Gamma-Globinketten."},"es":{"name":"Delta-beta-talasemia","definition":"La delta-beta-talasemia es una forma de BT (ver este término) caracterizada por una disminución o ausencia de síntesis de las cadenas de delta y beta globina con un aumento compensador de la síntesis de las cadenas gamma."},"it":{"name":"Delta-beta talassemia","definition":"La delta-beta talassemia è una forma di beta talassemia (BT; si veda questo termine) caratterizzata dalla diminuzione o dall'assenza della sintesi delle catene della delta- e della beta-globina e dall'aumento compensatorio dell'espressione della catena gamma della globina fetale."},"nl":{"name":"Delta-bèta-thalassemie","definition":"Een vorm van bèta-thalassemie, gekenmerkt door verminderde of afwezige synthese van delta- en bèta-globineketens met compenserend verhoogde synthese van foetale gamma-globineketens."},"pt":{"name":"Talassemia delta-beta","definition":"A delta-beta-talassemia é uma forma de beta-talassemia (ver este termo), caracterizada por diminuição ou ausência da síntese das cadeias delta e beta globina com um aumento compensatório na expressão da síntese da cadeia gama fetal."},"pl":{"name":"Delta-beta talasemia"},"cs":{"name":"Delta-beta-talasémie"},"uk":{"name":"Дельта-бета-таласемія","definition":"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis."},"zh":{"name":"δ-β-地中海贫血","definition":"δ-β-地中海贫血是一种β-地中海贫血（见该词条），其特征是δ-和β-珠蛋白链的合成减少或缺失，胎儿γ链合成表达的代偿性增加。"},"tr":{"name":"Delta-beta-talasemi"}},"xrefs":[{"source":"OMIM","code":"141749","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D56.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A50.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016489","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562716","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271985","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10012236","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]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18932066[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]},{"symbol":"HBD","name":"hemoglobin subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1301204[PMID]","hgnc":"4829","ensembl":"ENSG00000223609","omim":"142000","loci":["11p15.4"]},{"symbol":"HBG1","name":"hemoglobin subunit gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18932066[PMID]","hgnc":"4831","ensembl":"ENSG00000213934","omim":"142200","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"}],"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:0001935","label":"Microcytic anemia","frequency":"Very frequent (99-80%)","criteria":null}]}}