• Internal medicine · Jan 2023

    Case Reports

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

    • Yuma Nato, Yuki Kageyama, Kazutaka Suzuki, Keiko Shimojima Yamamoto, Hitoshi Kanno, and Hiroyuki Miyashita.
    • Department of Hematology, Yokkaichi Municipal Hospital, Japan.
    • Intern. Med. 2023 Jan 1; 62 (1): 107111107-111.

    AbstractMost 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.

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