A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome

Intern Med. 2023 Jan 1;62(1):107-111. doi: 10.2169/internalmedicine.9478-22. Epub 2022 May 31.

Abstract

Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein report a case of HS with no family history harboring a novel heterozygous mutation of SPTA1, c.2161G>A (p.E721K), and a homozygous polymorphism of UGT1A1*6. In silico analyses suggested that the mutation might contribute to the pathogenesis of HS. The coexistence of HS and Gilbert's syndrome increases the risk of gallstones. Therefore, splenectomy, alone or in combination with cholecystectomy, is recommended. The determination of genetic diathesis provides useful information for the management of hemolytic anemia.

Keywords: Gilbert's syndrome; SPTA1; hereditary spherocytosis.

Publication types

  • Case Reports

MeSH terms

  • Cytoskeletal Proteins / genetics
  • Gilbert Disease* / complications
  • Gilbert Disease* / diagnosis
  • Gilbert Disease* / genetics
  • Glucuronosyltransferase / genetics
  • Heterozygote
  • Humans
  • Mutation / genetics
  • Polymorphism, Genetic
  • Spherocytosis, Hereditary* / complications
  • Spherocytosis, Hereditary* / diagnosis
  • Spherocytosis, Hereditary* / genetics

Substances

  • Glucuronosyltransferase
  • Cytoskeletal Proteins