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Hereditary Spherocytosis Across Four Generations of the Single Family

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Affiliated Author(s)
하정숙전동석김지윤김흥식
Alternative Author(s)
Ha, Jung SookJeon, Dong SeokKim, Ji YoonKim, Heung Sik
Journal Title
Keimyung Medical Journal
Issued Date
2011
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.
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
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)
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