Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

Abstract Background Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional cases). Only ten mutations have been detected in the AK1 gene to date. In t...

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Auteurs principaux:	Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang, Prabhakar Kedar
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2021-07-01
Collection:	BMC Medical Genomics
Sujets:	Adenylate kinase deficiency Enzymopathies Prenatal diagnosis Congenital hemolytic anemia
Accès en ligne:	https://doi.org/10.1186/s12920-021-01038-2
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