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

التفاصيل البيبلوغرافية
العنوان: A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome
المؤلفون: Yuma, Nato, Yuki, Kageyama, Kazutaka, Suzuki, Keiko, Shimojima Yamamoto, Hitoshi, Kanno, Hiroyuki, Miyashita
المصدر: Internal medicine (Tokyo, Japan). 62(1)
سنة النشر: 2022
مصطلحات موضوعية: Heterozygote, Cytoskeletal Proteins, Polymorphism, Genetic, Mutation, Humans, Spherocytosis, Hereditary, Gilbert Disease, Glucuronosyltransferase
الوصف: 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.2161GA (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.
تدمد: 1349-7235
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::12774a8386e25dcefd4435fac748bfa1
https://pubmed.ncbi.nlm.nih.gov/35650129
Rights: OPEN
رقم الانضمام: edsair.pmid..........12774a8386e25dcefd4435fac748bfa1
قاعدة البيانات: OpenAIRE