BMC Med Genomics 2021 Jul 28;14(1):191. Epub 2021 Jul 28.
Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistorey Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
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 this study, we aimed to diagnose the unexplained issue of haemolytic anaemia and offer antenatal screening to the family. Read More