缺失型α-地中海贫血基因携带者红细胞参数特征研究

摘要

Objective To study the change characteristics of erythrocyte parameters in carriers of deletional alpha-thalassemia gene.Methods 389 patients with deletional alpha-thalassemia gene determined by the gap-PCR technique were classified into three groups based on different genotypes of alpha-thalassemia including silent thalassemia group,alpha-thalassemia trait group (265 ca-ses)and intermediate thalassemia group,and contemporaneous 188 healthy adults were randomly selected as the normal control-group(NC).The erythrocyte parameters including RBC,Hb,MCV,MCH,RDW were retrospectively analyzed and their differences were compared among aboved-mentioned groups by the analysis of variance and the multiple comparison.Results Alpha-thalasse-mia manifested by different degrees of microcyte hypochromia.There were statistically significant differences in the erythrocyte pa-rameters among various genotypes and phenotypes about erythrocyte indices(P <0.05).Moreover,the Hb,MCV and MCH values were lower than those in the control group,and had the decreasing tendency with the increase of deletedα-globin gene numbers;but the RDW value was higher than that in the control group,showing the increasing tendency,the differences had statistical siginifi-cance(P <0.05).Conclusion With the increase of deleted α-globin gene number,the characteristic of small-cell low-hemoglobin is more and more remarkable.RBC has a overall increase,while Hb,MCV and MCH have a decreasing tendency,and the heterogeneity of erythrocyte volume is increased.When MCV and MCH decreasing in high risk region,thalassemia should be highly suspected, but normal MCV and MCH can not exclude silent thalassemia and alpha-thalassemia trait.%目的：探讨缺失型α-地中海贫血基因携带者红细胞参数变化特点。方法经 gap-PCR 技术确定的389例缺失型α-地中海贫血基因携带者分为3组：（1）静止型：-α/αα型；（2）标准型：--SEA/αα型；（3）中间型或 HbH 型：-α/--SEA 型。选取同期188名健康体检者（男性97名、女性91名）做为对照组（NC 组）。采用方差分析及多重比较研究各组红细胞参数，包括RBC、Hb、MCV、MCH 和 RDW 等变化特点。结果缺失型α-地贫表现为不同程度的小红细胞低色素症；各基因型和表现型红细胞参数间差异均有统计学意义（P ＜0．05），且 Hb、MCV、MCH 值低于对照组，并随着ɑ珠蛋白基因缺陷数目的增加，有减小的趋势；而 RDW 值高于对照组，有增大的趋势，差异有统计学意义（P ＜0．05）。389例缺失型α-地贫基因携带者中，其中静止型占19．55％，标准型占68．12％，中间型占12．33％。结论随着ɑ珠蛋白基因缺陷数目增加，小细胞低色素特征越来越显著；RBC 总体增高，Hb、MCV 和 MCH 呈下降趋势，红细胞体积大小异质性增加。MCV、MCH 降低时应高度疑似地贫，但 MCV、MCH 正常时不能除外静止型、标准型地贫。