A Novel Hexokinase Mutation in a Child Presenting with Transfusion
Dependent Haemolytic Anaemia
Abstract
Hexokinase (HK) is one of the key regulatory enzymes for glycolysis. HK
catalyses the phosphorylation of glucose to glucose – 6 – phosphate
resulting in irreversible transfer of high-energy phosphate from ATP to
glucose. HK deficiency is a rare red cell enzyme defect. There are
approximately 30 cases and 10 mutations of HK deficiency reported till
date. Many patients remain undiagnosed due to mild manifestations of the
disease. Here we report a case of a 3-year-old boy who presented with
haemolytic anaemia and was found to have HK deficiency with a novel
mutation at exon 1 of HK1 gene.