遗传性椭圆形红细胞增多症——一个家系的分析

目的 探讨遗传性椭圆形红细胞增多症的实验诊断及与临床表现的关系。方法 对家系全部成员作血常规检查，尤其是作血涂片染色，油镜观察红细胞形态，计数椭圆形红细胞比值。结果 家系成员共检出遗传性椭圆形红细胞增多症7例，其中男3例女4例，符合常染色体显性遗传规律。结论 椭圆形红细胞更形能力下降是导致患临床表现及有关病理变化的原因。血涂片红细胞形态镜检是诊断遗传性椭圆形红细胞增多症的主要手段，在血液检验中应进一步重视。

Hereditary elliptocytosis:analysis of a family

Objective To investigate the relationship between clinical manifestation andexperimental diagnosis of hereditary elliptocytosis.MethodsBlood routine was performed inall of the members of the family.By blood smear staining, the shape of red blood cells wasobserved under high power microscope and the rate of red blood cells in ellipse was calculated.Results7 cases of hereditary elliptocytosis were identified in a family lineage,which wereconsistent with hereditary rules of autosomes. Of 7 patients,3 were male, and 4 were female.ConclusionThe descent of deformation ability of red blood cells in ellipse lead to clinicalmanifestation and pathological changes in patients.Blood smear staining and microscope examinationof red blood cells shape are important to diagnosis, which should be emphasized in bloodexamination.