不孕不育患者地中海贫血基因分布特征及HbA、HbA2、MCV、MCH参数分析

Distribution of thalassemia gene and analysis of HbA, HbA2, MCV, and MCH parameters in Infertile Patients

目的了解不孕不育患者地中海贫血（地贫）基因携带情况和分布特征，分析红细胞参数在地贫诊断中的应用价值。方法对受检者进行血常规、血红蛋白电泳和地贫基因检测（PCR＋膜杂交法），同时设置本院同期体检健康者作为对照组，分析受检者不同类型地贫基因携带情况和分布特征，分析不同类型地贫基因携带者HbA、HbA2、MCV、MCH的变化情况。结果3106例受检者中，共检出α和β地贫基因携带者299例，占比9．63％，其中α地贫196例，β地贫102例，复合型地贫1例，最常见类型为--SEA／αα、CD41-42（-TCTT）和IVS-2—654（C→T）。血红蛋白电泳检测结果显示，α地贫、β地贫及健康对照组HbA含量分别为（97．75±0．19）％、（94．07±0．25）％和（97．15±0．13）％，与健康对照组相比，差异均有统计学意义；HbA2含量分别为（2．25±0．21）％、（5．09±0．33）％和（2．85±0．14）％，与健康对照组相比，差异均有统计学意义。血常规检测结果显示，α地贫、β地贫及健康对照组MCV分别为（73．56±5．35）fl、（64．68±3．18）fl和（87．47±4．29）fl，与健康对照组相比，差异均有统计学意义；MCH含量分别为（23．37±1．53）Pg、（20．42±1．27）Pg和（30．254±2．04）Pg，与健康对照组相比，差异均有统计学意义。结论不孕不育患者地贫基因携带占比9．63％，最常见类型为--SEA/αα、CD41—42（-TCTT）和IVS-2—654（C—D；在不同类型地贫携带者中，HbA、HbA2、MCV、MCH均有不同程度变化，可在一定程度上作为地贫的筛查指标。

Objective To understand the carrier status and distribution characteristics of thalassemia in infertile patients and to analyze the application value of erythrocyte parameters in the diagnosis of thalassemia. Methods Blood routine examination, hemoglobin electrophoresis, and thalassemia gene detection （PCR ＋ membrane hybridization） were carried out in all the subjects. The healthy subjects from our hospital were set a control group. The distribution of different types of thalassemia genes and the changes of HbA, HbA2, MCV, and MCH in different types of thalassemia gene were analyzed. Results Among the 3 106 subjects, 299 cases were detected with α and β-thalassemia genes, accounting for 9.63%; 196 carried α-thalassemia, 102 β-thalassemia, and 1 compound thalassemia. The most common type was --SEA/αα, CD41-42 （-TCTT）, and IVS-2-654 （C → T）. The results of hemoglobin electrophoresis showed that the contents of HbA in α-thalassemia, β-thalassemia, and healthy control group were （97.75 ± 0.19）%, （94.07 ±0.25）% and （97.15 ± 0.13）%, respectively. Compared with the control group, the differences were statistically significant. The contents of HbA2 were （2.25 ± 0.21）%, （5.09 ± 0.33）%, and （2.85 ± 0.14）%, respectively; and compared with the control group, the difference was statistically significant. The results of blood routine test showed that the MCV ofα thalassemia, β-thalassemia, and the control group were （73.56±5.35） t, （64.68 ± 3.18） t, and （87.47± 4.29） fl （P 〈0.05）, respectively; compared with thehealthy control group, the differences were statistically significant. The MCH of ct thalassemia, β-thalassemia, and the control group were （23.37 ± 1.53） pg, （20.42 ±1.27） pg, and （30.25 ± 2.04） pg, respectively; compared with the healthy control group, the difference was statistically significant. Conclusion The prevalence of thalassemia genes in infertile patients was 9.63%; the most common types were --SEA/αα, CD41-42 （-TCTT）, and IVS-2-654 （C → T）; in different types of thalassemia genes carriers, HbA, HbA2, MCV, and MCH have varying degrees of change to a certain extent, so it could be used as a screening index of thalassemia.