|
KMID : 0980720110300020178
|
|
Keimyung Medical Journal
2011 Volume.30 No. 2 p.178 ~ p.182
|
|
|
Hereditary Spherocytosis Across Four Generations of the Single Family
|
|
Son Kwang-Kuk
Ha Jung-Sook
Jeon Dong-Suk
Kim Ji-Yoon
Kim Heung-Sik
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Genetic counseling, Hereditary, Pedigree, Spherocytosis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
|
|