{"orpha":330032,"name":"Hemoglobin Lepore-beta-thalassemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HbLepore-beta-thalassemia syndrome","Lepore-beta-thalassemia syndrome"],"definition":"A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330032/","orphanet_url":"https://www.orpha.net/en/disease/detail/330032","names":{"fr":{"name":"Hémoglobine Lepore-bêta-thalassémie","synonyms":["HbLepore-bêta-thalassémie","Lepore-bêta-thalassémie","Thalassémie bêta-Hb Lepore","Thalassémie bêta-hémoglobine Lepore"],"definition":"Bêta-thalassémie rare associée à une autre anomalie de l'hémoglobine caractérisée par la présence du variant Lepore de l'hémoglobine en association avec la bêta-thalassémie. Selon le type de bêta-thalassémie, la présentation clinique est très variable, allant d'une anémie microcytaire hypochrome sévère avec dépendance aux transfusions de sang total à une anémie modérée et compensée, sans nécessité de transfusions régulières."},"de":{"name":"Hämoglobin Lepore-Beta-Thalassämie-Syndrom","synonyms":["HbLepore - Beta-Thalassämie"],"definition":"Eine seltene Beta-Thalassämie in Verbindung mit einer anderen Hämoglobin-Anomalie, die durch das Vorhandensein der Hämoglobin-Lepore-Variante in Verbindung mit einer Beta-Thalassämie gekennzeichnet ist. Das klinische Bild ist je nach Typ der Beta-Thalassämie sehr unterschiedlich und reicht von einer schweren hypochromen mikrozytären Anämie und vollständiger Transfusionsabhängigkeit bis hin zu einer mäßigen, kompensierten Anämie ohne Bedarf an regelmäßigen Bluttransfusionen."},"es":{"name":"Síndrome de hemoglobina Lepore-beta-talasemia","synonyms":["Hb Lepore-beta-talasemia","Lepore-beta-talasemia"],"definition":"Es una beta-talasemia poco frecuente acompañada de otra anomalía de la hemoglobina, caracterizada por la presencia de la variante de hemoglobina Lepore. La presentación clínica es altamente variable, en función del tipo de beta-talasemia, e incluye desde anemia microcítica hipocrómica grave con una dependencia completa de las transfusiones hasta anemia compensada moderada que no requiere transfusiones periódicas de sangre."},"it":{"name":"Sindrome emoglobina Lepore-beta talassemia","synonyms":["HbLepore - beta talassemia","Lepore - beta talassemia"],"definition":"Si tratta di una beta talassemia rara, associata a un'altra anomalia dell'emoglobina, caratterizzata dalla presenza della variante Lepore dell'emoglobina associata alla beta-talassemia. Il quadro clinico è molto variabile, dipende dal tipo di beta-talassemia, e comprende l'anemia ipocromica microcitica grave e la dipendenza completa dalle trasfusioni, fino all'anemia moderata compensata senza necessità di trasfusioni di sangue regolari."},"nl":{"name":"Lepore-hemoglobine - bèta-thalassemie-syndroom","synonyms":["HbLepore - bèta-thalassemie-syndroom","Lepore - bèta-thalassemie-syndroom"],"definition":"Een zeldzame vorm van bèta-thalassemie geassocieerd met een andere anomalie van hemoglobine, gekenmerkt door de aanwezigheid van de Lepore-variant van hemoglobine in associatie met bèta-thalassemie. De klinische presentatie is zeer variabel, afhankelijk van het type van bèta-thalassemie, en gaat van ernstige hypochrome microcytaire anemie en volledige afhankelijkheid van transfusie, tot matige, gecompenseerde anemie zonder nood aan regelmatige bloedtransfusies."},"pt":{"name":"Hemoglobina Lepore - beta-talassemia"},"pl":{"name":"Hemoglobina Lepore - beta-talasemia","synonyms":["HbLepore - beta-talasemia","Lepore - beta-talasemia"]},"cs":{"name":"Syndrom zahrnující beta talasémii s hemoglobinem Lepore","synonyms":["HbLepore-beta-thalassemia syndrome","Lepore-beta-thalassemia syndrome"]},"uk":{"name":"Синдром гемоглобіну Лепора-бета-таласемії","synonyms":["Синдром HbLepore-бета-таласемії","Синдром лепоро-бета-таласемії"],"definition":"A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions."},"zh":{"name":"血红蛋白性乙型β地中海贫血综合征","synonyms":["Hb乙型-β-地中海贫血综合征"]},"tr":{"name":"Hemoglobin Lepore-beta-talasemi sendromu","synonyms":["Lepore-beta-talasemi sendromu","HbLepore-beta-talasemi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D56.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":231230,"name":"Beta-thalassemia associated with another hemoglobin anomaly","classifications":[156,194,233]}],"children":[{"orpha":715135,"name":"Hemoglobin Lepore-beta-thalassemia intermedia","type":"Clinical subtype"},{"orpha":715140,"name":"Hemoglobin Lepore-beta-thalassemia major","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18932069[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":715135,"name":"Hemoglobin Lepore-beta-thalassemia intermedia"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18932069[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":715140,"name":"Hemoglobin Lepore-beta-thalassemia major"}},{"symbol":"HBD","name":"hemoglobin subunit delta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18932069[PMID]","hgnc":"4829","ensembl":"ENSG00000223609","omim":"142000","loci":["11p15.4"],"via":{"orpha":715135,"name":"Hemoglobin Lepore-beta-thalassemia intermedia"}},{"symbol":"HBD","name":"hemoglobin subunit delta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"18932069[PMID]","hgnc":"4829","ensembl":"ENSG00000223609","omim":"142000","loci":["11p15.4"],"via":{"orpha":715140,"name":"Hemoglobin Lepore-beta-thalassemia major"}}],"inheritance":["Autosomal recessive"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}