{"orpha":715147,"name":"Low oxygen affinity hemoglobin disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715147/","orphanet_url":"https://www.orpha.net/en/disease/detail/715147","names":{"fr":{"name":"Anémie par hémoglobine hypoaffine"},"de":{"name":"Hämoglobin-Krankheit mit verringerter Sauerstoffaffinität"},"es":{"name":"Enfermedad de la hemoglobina con baja afinidad por el oxígeno"},"it":{"name":"Emoglobinopatia a bassa affinità per l'ossigeno"},"nl":{"name":"Aandoening door hemoglobine met lage affiniteit voor zuurstof"},"pt":{"name":"Low oxygen affinity hemoglobin disease"},"pl":{"name":"Hemoglobinopatia z niskim powinowactwem do tlenu"},"cs":{"name":"Low oxygen affinity hemoglobin disease"}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":466066,"name":"Genetic hemoglobinopathy","classifications":[156]},{"orpha":68364,"name":"Hemoglobinopathy","classifications":[194,233]}],"children":[{"orpha":715154,"name":"Low oxygen affinity alpha chain hemoglobin disease","type":"Etiological subtype"},{"orpha":715157,"name":"Low oxygen affinity beta chain hemoglobin disease","type":"Etiological subtype"},{"orpha":280615,"name":"Low oxygen affinity gamma chain hemoglobin disease","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32411491[PMID]_11134494[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"],"via":{"orpha":715154,"name":"Low oxygen affinity alpha chain hemoglobin disease"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28066926[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":715157,"name":"Low oxygen affinity beta chain hemoglobin disease"}},{"symbol":"HBG2","name":"hemoglobin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21561349[PMID]","hgnc":"4832","ensembl":"ENSG00000196565","omim":"142250","loci":["11p15.4"],"via":{"orpha":280615,"name":"Low oxygen affinity gamma chain hemoglobin disease"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}