不同年龄组静止型α-地中海贫血的血液学参数分析 [中文引用][英文引用]

目的 通过分析静止型α-地中海贫血的血液学参数，探讨有效筛查静止型α-地中海贫血的方法。方法 以299例确诊的静止型α-地中海贫血为研究对象。按年龄分为成人组和儿童组，系统分析各组的平均红细胞体积（MCV）、平均红细胞血红蛋白量（MCH）等血液学参数，对比组间差异。结果 缺失型突变占静止型α-地中海贫血的绝大多数。在成人组，MCV、MCH单指标筛查静止型α-地中海贫血的漏诊率高达50%以上，联合筛查时也会有45.7%漏诊。儿童组不同基因型的MCV、MCH均明显低于正常参考范围，亦低于成人组，组间比较具有统计学意义。结论 MCV、MCH筛查学龄前儿童静止型α-地中海贫血的灵敏度远高于成人。可将学龄前血参数作为筛查静止型α-地中海贫血的依据。

Objective To explore the effective screening methods for silent α- thalassemia by analyzing the hematological parameters. Methods 299 cases confirmed as silent α- thalassemia were divided into adult group and children group according to age. The MCV、MCH and other hematological parameters of each group were analyzed, and the differences between groups were compared. Results Deletion type mutations accounts for the majority of the silent α- thalassemia. In the adult group, the missed diagnosis rate of silent α- thalassemia was as high as 50% by MCV、MCH single index screening, 45.7% by MCV and MCH combined screening. In the children group, the MCV and MCH of different genotypes were significantly lower than the normal reference range, lower than that of the adult group, and the difference between the two groups was statistically significant. Conclusions The sensitivity of MCV and MCH screening for preschool children with silent α- thalassemia is much higher than that of adults. The preschool blood parameters can be used as the basis for screening silent α- thalassemia.