Case Of Congenital Hemolytic Anemia - Hexokinase Deficiency In An Infant

Abstract

Hexokinase deficiency is a rare autosomal recessive disorder that causes congenital haemolytic anaemia. It affects the initial glycolytic enzymes, causing premature haemolysis of blood cells, leading to severe and chronic nonspherocytic haemolytic anaemia, often accompanied by jaundice. This condition was less frequent and did not reveal spherocytosis. Here, we present the case of an infant with a 4-month history of progressive pallor and jaundice accompanied by hepatosplenomegaly. Thorough investigations have ruled out conditions such as thalassaemia, hereditary spherocytosis, and autoimmune haemolytic anaemia. Whole exome sequencing was eventually performed as a last resort to identify the possibility of an inherited defect presenting with complaints, and a final diagnosis of haemolytic anaemia due to hexokinase 1 deficiency was arrived at, with homozygosity for the defect located on exon 16 and the variant c.2252G>C (p.Gly751Ala)