Correlation of Genetic Mutation With Outcomes in Children With Hereditary Spherocytosis Undergoing Partial Splenectomy: A Multicentre Study

Hereditary Spherocytosis (HS) is a common genetic hematological disorder causing a life-long hemolytic anemia, with sequela of hemolysis. Children with severe HS commonly undergo partial or total splenectomy (PS, TS); PS confers the theoretical advantage of maintaining splenic immune function, but may be associated with regrowth, ongoing hemolysis, and need for completion splenectomy. HS can be caused by 5 different pathogenic gene variants. A rare and severe form is caused by homozygous/compound heterozygous mutations in the SPTA1 gene, coding for alpha spectrin.