계명대학교 의학도서관 Repository

Hereditary Spherocytosis Across Four Generations of the Single Family

Metadata Downloads
Author(s)
Kwang Kuk SonJung Sook HaDong Seok JeonJi Yoon KimHeung Sik Kim
Keimyung Author(s)
Ha, Jung SookJeon, Dong SeokKim, Ji YoonKim, Heung Sik
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Keimyung Medical Journal
Issued Date
2011
Volume
30
Issue
2
Keyword
Genetic counselingHereditaryPedigreeSpherocytosis
Abstract
Hereditary spherocytosis (HS) is an important cause of inherited nonimmune hemolytic anemia in which defects of protein producing the biconcave shape of red cells result spleen trap the spherocytic cells and shorten the red cell life span. HS is usually transmitted as an autosomal dominant inheritance form and less commonly as nondominant inheritance form. Some patients without family history have de novo mutations. There are no actual estimates of the prevalence in general populations. And the more, as the family size are getting smaller with few relatives and cultural pressure against genetic disease is persisting, it is difficult to know family inheritance pattern and genetic mutations. We report an informative family with their pedigree in which the HS occurred in four generation with literature reviewing.
Keimyung Author(s)(Kor)
하정숙
전동석
김지윤
김흥식
Publisher
Keimyung University School of Medicine
Citation
Kwang Kuk Son et al. (2011). Hereditary Spherocytosis Across Four Generations of the Single Family. Keimyung Medical Journal, 30(2), 178–182.
Type
Article
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/15537
Appears in Collections:
2. Keimyung Medical Journal (계명의대 학술지) > 2011
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
공개 및 라이선스
  • 공개 구분공개
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.