儿童遗传性球形红细胞增多症19例临床分析——附一例家系调查

Clinical analysis of 19 cases hereditary spherocytosis-1 case of pedigree investigation

目的探讨儿童遗传性球形红细胞增多症临床特性、诊断要点;方法回顾性分析19例球形红细胞增多症患儿临床表现、实验室检查、治疗与转归,对其中1例患儿的基因突变类型与临床表型进行家系分离,分析该基因突变位点是否是该患儿致病基因;结果球形红细胞增多症典型病例根据血常规参数,溶血指标检查,多种生化实验检查,可诊断。实验室检查不能诊断的非典型疑难病例可行分子生物基因检测明确诊断;结论遗传性球形红细胞增多症遗传异质性明显,ANK1 c.399T>G可能为其致病基因之一。

Objective：To study the clinical feature of children hereditary spherocytosis disease,diagnostic methods. Methods：Retrospective analysis of 19 cases of children hereditary spherocytosis clinical manifestation,laboratory tests,treatment and outcome. One case of children with gene mutation and clinical phenotypes of family separation,Analysis of the gene mutations are the children of pathogenic genes. Results：Hereditary spherocytosis typical cases according to routine blood parameters,hemolysis index check,check a variety of biochemical experiment,can be diagnosed. Laboratory tests can＇t diagnosis of atypical cases feasible molecular biological gene diagnosis. Conclusion：Hereditary spherical erythrocytosis disease genetic heterogeneity,ANK1 c.399 TG for its one of pathopoiesia genes.