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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2022.1
- 수록면
- 58 - 62 (5page)
- DOI
- 10.47429/lmo.2022.12.1.58
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초록· 키워드
오류제보하기
Hereditary spherocytosis (HS) is caused by defects in red blood cell membrane components encoded by SPTA1, SPTB, ANK1, SLC4A1, and EPB42. The low sensitivity and specificity of conventional tests such as peripheral blood smear and osmotic fragility test (OFT) limit the diagnosis of HS, especially in patients with mild phenotypes and no family history of the condition. Mutations in ANK1, which encodes ankyrin-1 protein, are present in more than half of HS cases and is known as the most common cause of HS in Korea. Mutations in ANK1 are mostly inherited in an autosomal dominant manner. Here, we report the case of a Korean patient with HS carrying a de novo mutation in ANK1. The patient was suspected of having HS due to neonatal jaundice and clinical manifestations of hemolysis, but the OFT results were unclear. At the age of 20, the patient was definitively diagnosed with HS, caused by a de novo heterozygous ANK1 variant c.856C>T (p.Arg286*), using next-generation sequencing-based multi-gene panel testing and Sanger sequencing analysis.
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