{"orpha":715140,"name":"Hemoglobin Lepore-beta-thalassemia major","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715140/","orphanet_url":"https://www.orpha.net/en/disease/detail/715140","names":{"fr":{"name":"Hémoglobine Lepore-bêta-thalassémie majeure"},"de":{"name":"Hämoglobin Lepore-beta-Thalassämie major"},"es":{"name":"Hemoglobina Lepore-beta-talasemia mayor"},"it":{"name":"Beta talassemia maggiore correlata all’emoglobina Lepore"},"nl":{"name":"Lepore-hemoglobine - bètathalassemie major"},"pt":{"name":"Hemoglobin Lepore-beta-thalassemia major"},"pl":{"name":"Hemoglobina Lepore-β-talasemia główny"},"cs":{"name":"Hemoglobin Lepore-beta-thalassemia major"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":330032,"name":"Hemoglobin Lepore-beta-thalassemia syndrome","classifications":[156,194,233]}],"children":[],"genes":[{"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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}