广东惠州地区中间型β地贫人群突变分布及与血红蛋白组分的关系

Mutation Distribution of Intermediate β Thalassemia Population in Huizhou of Guangdong Province and Its Relation with Hemoglobin Components

目的:研究广东省惠州市地区中间型β地中海贫血(地贫)人群基因突变分布及其与血红蛋白组分(HbA2)的关系。方法:选取2014年5月-2016年5月本院经门诊收治住院的8 298例患者,进行血液学常规指标和HbA2含量测定,将筛查阳性的疑似地贫患者的血液进行突变基因类型检测,将确诊为中间型β地贫患者作为观察组,随机选取筛查阴性者为对照组。统计确诊的中间型β地贫患者数量及发病率、突变基因类型构成情况;比较两组一般资料、血常规(MCV、MCH)和HbA2;比较常见突变类型的HbA2。结果:确诊为中间型β地贫138例,发病率1.66%;按照突变基因类型构成比由高到低分别为CD41-42型51例、CD17型42例、IVS-1-5型37例、-28型3例、IVS-1-1型2例、IVS-Int 654型2例、CAP型1例;选取筛查阴性者147例为对照组,观察组MCV、MCH均低于对照组,HbA2高于对照组,差异均有统计学意义(P<0.05);常见基因类型CD41-42型、CD17型、IVS-1-5型Hb A2含量比较,差异无统计学意义(P>0.05)。结论:广东惠州地区中间型β地贫人群突变常见基因类型为CD41-42型、CD17型、IVS-1-5型,但HbA2差异不大;中间型β地贫人群的血常规、HbA2与正常人群相比有明显差异。

Objective:To study the mutation distribution of intermediateβthalassemia population in Huizhou of Guangdong province and its relation with hemoglobin components.Method:A total of 8 298 patients admitted to our hospital from May 2014 to May 2016 were enrolled.Routine hematological parameters and HbA2 content were measured,the blood samples of suspected thalassemia patients with positive screening were tested for mutation gene types,the patients diagnosed as intermediateβthalassemia were taken as observation group,and those with negative screening were randomly selected as control group.The number of patients with intermediateβthalassemia,the incidence and the composition of mutant gene types were counted,the general data,blood routine(MCV,MCH)and HbA2 were compared between two groups,the common mutant types of HbA2 were compared.Result:A total of 138 patients of intermediateβthalassemia were diagnosed,with an incidence of 1.66%.According to the composition ratio of mutant gene types,51 cases were CD41-42,42 cases were CD17,37 cases were IVS-1-5,3 cases were-28,2 cases were IVS-1-1,2 cases were IVS-Int 654 and 1 case was CAP.147 cases of negative screening were selected as control group,MCV and MCH in observation group were lower than those of control group,and HbA2 was higher than that of control group,the differences were statistically significant(P<0.05).There was no significant difference in HbA2 content among CD41-42,CD17 and IVS-1-5 genotypes(P>0.05).Conclusion:CD41-42,CD17 and IVS-1-5 are the common mutation genotypes in the intermediateβthalassemia population in Huizhou of Guangdong Province,but HbA2 is not significantly different,the blood routine and HbA2 of the intermediateβthalassemia population are significantly different from those of normal population.