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遗传性球形红细胞增多症(HS)一直被认为是一种常染色体显性遗传病。但许多儿科医师不明白为何有的病人没有家族史。有些HS病人被误诊为ABO溶血症、自身免疫性溶血性贫血和白血病。散发的HS曾被解释为自发突变,不完全外显率或隐性遗传性的突变。本文叙述了确定为家族史阳性的球形红细胞增多症发病率的一个回顾性研究的结果。
Hereditary spherocytosis (HS) has long been considered an autosomal dominant disease. However, many pediatricians do not understand why some patients have no family history. Some HS patients are misdiagnosed as ABO hemolytic disease, autoimmune hemolytic anemia and leukemia. Sporadic HS has been interpreted as a spontaneous mutation, incomplete penetrance or recessive genetic mutation. This article describes the results of a retrospective study of the incidence of spherocytosis identified as having a positive family history.