惠州地区α-地中海贫血基因型与红细胞参数的相关性

目的:研究惠州地区α-地中海贫血（α-地贫）患者基因型及其红细胞（RBC）参数变化，为临床α-地贫基因型的预测提供初步证据。 方法:将已确定的α-地贫基因类型的90例患者随机分为3组，其中α-地贫静止型患者30例、α-地贫标准型患者28例、α-地贫HbH型患者32例，同时选择 30例健康人作为对照组，分别检测各组对应的RBC参数指标，包括红细胞（RBC）计数、血红蛋白（HGB）、平均红细胞容积（MCV）、平均红细胞血红蛋白量（MCH）、红细胞体积分布宽度（RDW）。 结果:不同基因型的α-地贫患者均表现出不同程度的小红细胞低色素症状；与对照组相比，3种基因型的HGB、MCV、MCH均明显降低，且与贫血程度呈负相关，具有统计学意义（P<0.05）；同对照组相比，3种基因型的RDW明显升高，与贫血程度呈正相关，且有统计学意义（P<0.05）；随α-地贫患者由静止型向HbH型变化，其相应的RBC参数指标也呈现明显差异（P<0.05）。 结论:RBC相关参数具备成为α-地贫基因类型预测手段的潜力，值得进一步进行大样本和多中心研究。

Correlation between alpha-thalassemia genotypes and red blood cell parameters in Huizhou area

Abstract: Objective To study the changes of genotypes and red blood cell (RBC) parameters in patients with alpha-thalassemia in Huizhou area, and to provide preliminary evidence for the prediction of clinical alpha-thalassemia genotype. Methods Ninety patients with confirmed alpha-thalassemia genotypes were randomly divided into 3 groups, including 30 of silent alpha-thalassemias carriers, 28 diagnosed with standard alpha-thalassemia and 32 alpha-thalassemia patients with HbH. Meanwhile, 30 healthy controls were selected as control group. The RBC parameters were detected in each group, including RBC counting, hemoglobin (HGB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and RBC distribution width (RDW). Results Alpha-thalassemia patients with different genotypes showed various degrees of hypochromic microcytic anemia symptoms. The levels of HGB, MCV and MCH in alpha-thalassemia patients of 3 genotypes were significantly lower than those in the control group and were negatively correlated to the degree of anemia, with statistical significance (P<0.05). Compared with normal controls, the patients of 3 genotypes had significantly higher RDW values which were positively correlated to the degree of anemia, with statistical differences (P<0.05). Alpha-thalassemia patients also showed significant differences in the corresponding RBC parameters when changing from silent gene type to HbH type (P<0.05). Conclusion RBC-related parameters have the potential to be predictors of alpha-thalassemia gene types, worthy of further large sample and multicenter studies.