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

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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Bibliographic Details
Main Authors: Rashmi Dongerdiye, Abhilasha Sampagar, Rati Devendra, Prashant Warang, Prabhakar Kedar
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Medical Genomics
Subjects:
Adenylate kinase deficiency
Enzymopathies
Prenatal diagnosis
Congenital hemolytic anemia
Online Access:https://doi.org/10.1186/s12920-021-01038-2

Internet

https://doi.org/10.1186/s12920-021-01038-2

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