{"orpha":715143,"name":"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715143/","orphanet_url":"https://www.orpha.net/en/disease/detail/715143","names":{"fr":{"name":"Bêta-thalassémie intermédiaire hétérozygote avec gènes alpha-globine surnuméraires"},"de":{"name":"Heterozygote Beta-Thalassämie intermedia mit überzähligem Alpha-Globin-Gen"},"es":{"name":"Beta-talasemia intermedia heterocigótica con gen supernumerario de globina alfa"},"it":{"name":"Beta talassemia intermedia eterozigote con un gene dell’alfa-globina soprannumerario"},"nl":{"name":"Heterozygote bètathalassemie intermedia met surnumerair alfa-globinegen"},"pt":{"name":"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene"},"pl":{"name":"Heterozygotyczna beta-talasemia pośrednia z nadliczbowym genem alfa-globiny"},"cs":{"name":"Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene"}},"xrefs":[{"source":"ICD-10","code":"D56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":848,"name":"Beta-thalassemia","classifications":[156,188,193,194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18249014[PMID]_25690803[PMID]_34434372[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]},{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18249014[PMID]_25690803[PMID]_34434372[PMID]","hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18249014[PMID]_25690803[PMID]_34434372[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}