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Article

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

Internal medicine (Tokyo, Japan) - 1 Jan 2023

Nato Yuma, Kageyama Yuki, Suzuki Kazutaka, Shimojima Yamamoto Keiko, Kanno Hitoshi, Miyashita Hiroyuki

Abstract excerpt

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...

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Identifiers

PMID: 35650129
DOI: 10.2169/internalmedicine.9478-22
PMCID: PMC9876709

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