{"orpha":231230,"name":"Beta-thalassemia associated with another hemoglobin anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Beta-thalassemia associated with another Hb anomaly"],"definition":"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia].","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231230/","orphanet_url":"https://www.orpha.net/en/disease/detail/231230","names":{"fr":{"name":"Bêta-thalassémie associée à une autre anomalie de l'hémoglobine","synonyms":["Bêta-thalassémie associée à une autre anomalie de l'Hb","Thalassémie bêta associée à une autre anomalie de l'Hb","Thalassémie bêta associée à une autre anomalie de l'hémoglobine"],"definition":"La bêta-thalassémie (BT) associée à une anomalie de l'hémoglobine (Hb) résulte en un spectre variable d'atteintes cliniques, depuis un état asymptomatique jusqu'à des atteintes sévères, selon la sévérité de la mutation causale et le type d'anomalie de l'Hb [persistance héréditaire d'Hb foetale, delta-bêta thalassémie, Hb C - bêta-thalassémie, Hb E - bêta-thalassémie et Hb S - bêta-thalassémie ]."},"de":{"name":"Beta-Thalassämie mit assoziierter sonstiger Hämoglobin-Anomalie","synonyms":["Beta-Thalassämie mit assoziierter sonstiger Hb-Anomalie"],"definition":"Beta-Thalassämien in Verbindung mit Hämoglobin (Hb)-Anomalien manifestieren sich in einem breiten klinischen Spektrum, das, abhängig vom Schweregrad der Thalassämie-Mutation und dem Typ der Hb-Anomalie [Hereditäre Persistenz des fetalen Hb, Delta-Beta-Thalassämie, Hb C - Beta-Thalassämie, Hb E - Beta-Thalassämie und Hb S - Beta-Thalassämie (s. diese Termini)], von fehlender bis zu schwerer Symptomatik reicht."},"es":{"name":"Beta-talasemia asociada a otra anomalía de la hemoglobina","synonyms":["Beta-talasemia asociada a otra anomalía de la Hb"],"definition":"La beta-talasemia asociada a defectos estructurales de la Hb suele ofrecer un espectro clínico variable que abarca desde formas asintomáticas a formas graves según la mutación talasemica y el tipo de hemoglobinopatía [Persistencia Hereditaria de Hb fetal, delta-beta- talasemia, Hb C - beta-talasemia, Hb E - beta-talasemia y Hb S - beta-talasemia (ver estos términos)]."},"it":{"name":"Beta talassemia associata ad altro difetto dell'emoglobina","synonyms":["Beta talassemia associata ad altra anomalia dell'emoglobina","Beta talassemia associata ad altro difetto dell'Hb"],"definition":"La beta talassemia associata a difetti dell'emoglobina (Hb) comprende uno spettro clinico variabile, dalle forme asintomatiche al coinvolgimento grave, e dipende dal tipo di mutazione nel gene-malattia e dal difetto dell'Hb [persistenza ereditaria dell'Hb fetale, delta-beta talassemia, HbC-beta talassemia, HbE-beta talassemia e HbS-beta talassemia (si vedano questi termini)]."},"nl":{"name":"Bèta-thalassemie geassocieerd met een andere hemoglobineanomalie","synonyms":["Bèta-thalassemie geassocieerd met een andere Hb-anomalie"],"definition":"Bèta-thalassemie geassocieerd met hemoglobine (Hb)-anomalieën resulteert in een variabel klinisch spectrum, gaande van asymptomatisch tot ernstig, afhankelijk van de ernst van de thalassemie-mutatie en het type van de Hb-anomalie (hereditaire persistentie van foetaal Hb, delta-bèta-thalassemie, HbC - bèta-thalassemie, HbE - bèta-thalassemie, en HbS - bèta-thalassemie)."},"pt":{"name":"Talassemia beta associada a anomalia da hemoglobina","definition":"As beta-talassemias associadas a anomalias da hemoglobina resultam (Hb) num espectro clínico variável, de assintomática a grave, dependendo da gravidade da mutação da talassemia e do tipo de anomalia da Hb [persistência hereditária de Hb fetal, delta-beta-talassemia, Hb C - beta-talassemia, Hb E - beta-talassemia e Hb S - beta-talassemia (ver estes termos)]."},"pl":{"name":"Beta-talasemia z towarzyszącą inną anomalią hemoglobiny","synonyms":["Beta-talasemia z towarzyszącą inną anomalią Hb"]},"cs":{"name":"Beta-talasémie asociovaná s jinými anomáliemi hemoglobinu","synonyms":["Beta-talasémie asociovaná s jinými Hb anomáliemi"]},"uk":{"name":"Бета-таласемія, повязана з іншою аномалією гемоглобіну","synonyms":["Бета-таласемія, повязана з іншою аномалією Hb"],"definition":"Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia (see these terms)]."},"zh":{"name":"与另一种血红蛋白异常相关的β-地中海贫血","synonyms":["与另一种血红蛋白异常相关的β-地中海贫血"],"definition":"β-地中海贫血伴血红蛋白（Hb）异常会导致不同的临床表现，从无症状到严重表型都可发生，这取决于地中海贫血变异的严重程度和Hb异常的类型[胎儿Hb、δ-β-地中海贫血、Hb C-β-地中海贫血、Hb E-β-地中海贫血、Hb S-β-地中海贫血（见这些词条）的遗传持久性]。"},"tr":{"name":"Başka bir hemoglobin anomalisi -ilişkili beta-talasemi","synonyms":["Başka bir Hb anomalisi ile ilişkili beta-talasemi"]}},"xrefs":[{"source":"MONDO","code":"16488","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679839","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":[{"orpha":231242,"name":"Hemoglobin C-beta-thalassemia syndrome","type":"Disease"},{"orpha":231249,"name":"Hemoglobin E-beta-thalassemia syndrome","type":"Disease"},{"orpha":330032,"name":"Hemoglobin Lepore-beta-thalassemia syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[],"phenotypes":null}