Department of Hematology, Yokkaichi Municipal Hospital, Japan.
Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Japan.
Intern Med. 2023 Jan 1;62(1):107-111. doi: 10.2169/internalmedicine.9478-22. Epub 2022 May 31.
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.
大多数遗传性球形红细胞增多症（HS）患者有疾病家族史，而无此类病史者则难以诊断。本研究报道了一例 HS 患者，其携带 SPTA1 基因 c.2161G>A（p.E721K）杂合突变和 UGT1A1*6 纯合多态性，无家族史。体外分析提示该突变可能与 HS 的发病机制有关。HS 与 Gilbert 综合征共存增加了胆结石的风险。因此，建议行脾切除术，单独或联合胆囊切除术。遗传素质的确定为溶血性贫血的治疗提供了有用的信息。
