Hereditary Spherocytosis Across Four Generations
of the Single Family |
Hereditary Spherocytosis Across Four Generations of the Single Family |
Kwang Kuk Son; Jung Sook Ha; Dong Seok Jeon; Ji Yoon Kim; Heung Sik Kim |
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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. |
Key Words:
Genetic counseling, Hereditary, Pedigree, Spherocytosis |