地中海贫血基因检测结果及血液学表型分析

Analysis of Gene Detection and Hematological Phenotype of Thalassemia

目的:了解本地区人群中地中海贫血基因型分布特点,分析β-地中海贫血杂合子血液学表型与年龄的关系。方法:选取2017年6月至2021月6月于成都医学院第一附属医院检测地贫基因疑似病例1 351例,采用PCR-反向斑点杂交法检测常见α、β地中海贫血基因类型,收集确诊病例的MCV、MCH、MCHC、Hb数据。β-地中海贫血杂合子患者按照年龄分为0-18岁组、19-50岁组、> 50岁组,比较各组间血液学表型的差异。结果:在1 351例检测标本中,确诊地中海贫血523例(38.71%),其中13种基因型α-地贫260例(19.25%),12种基因型β-地贫252例(18.65%),9种基因型α复合β地贫11例。MCV、MCH在0-18岁组、19-50岁组、> 50岁组呈明显上升趋势,MCHC在0-18岁组最高,Hb在> 50岁组最低,差异均具有统计学意义(P<0.05)。结论:本地区α-地中海贫血以--^(SEA)/αα基因型为主,β地中海贫血以CD41-42/N、IVS-II-654/N基因型为主,且在β-地中海贫血杂合子中,MCV、MCH在0-18岁组最低、在> 50岁组最高,年龄对地中海贫血初筛中血液学参数的影响,为临床诊疗过程中提供了一定的参考价值。

Objective:To investigate gene mutation types of thalassemia in the population of this area and the relationship between hematological phenotype and age inβ-thalassemia. Methods: 1 351suspected cases of thalassemia were detected in the First Affiliated Hospital of Chengdu Medical College from June2017to June2021. PCR-reverse dot blot hybridization(PCR-RDB)technique was used to detect the commonαandβthalassemia gene types,then the data of MCV,MCH,MCHC and Hb of confirmed cases were collected. The heterozygotes ofβ-thalassemia were divided into0-18year group, 19-50year group and> 50year group according to age,and the differences of hematological phenotypes among different groups were compared. Results:Among the detected1 351samples, 523(38.71%)cases were diagnosed as thalassemia, 13genotypes were detected in260cases(19.25%)withα-thalassemia;and12genotypes were detected in252cases(18. 65%)withβ-thalassemia;9genotypes were detected in11cases withαβthalassemia. It was found that MCV and MCH were increased significantly in0-18year group, 19-50year group and> 50year group,MCHC was highest in0-18year group,and Hb was the lowest in the> 50year group,and the difference was statistically significant(P< 0.05). Conclusion:In this area,--^(SEA)/αα was the major genotype ofα-thalassemia,and CD41-42/N and IVS-II-654/N were the major genotypes ofβ-thalassemia. Morever,MCV and MCH were the lowest in the0-18year old group and the highest in the> 50years old group in heterozygotes ofβ-thalassemia. The influence of age on hematological parameters in the primary screening of thalassemia provides a certain reference value in clinical diagnosis and treatment.