Hereditary Spherocytosis Across Four Generations of the Single Family

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.