广东广西交界地区地中海贫血发生率及基因检测结果分析

目的研究两广交界地区地中海贫血的检出率及其基因分布，预防地中海贫血重症患儿的出生，减少出生缺陷。方法采用红细胞平均体积（MCV）、红细胞脆性试验及血红蛋白电泳三项联合测定对2503例进行地中海贫血筛查；用单管多重PCR（gap—PCR）及DNA芯片反向点杂交（RDB／PCR）检测技术，分别对初筛阳性者进行α、β地中海贫血基因检测。结果2503例受检者中筛查阳性502例，初筛阳性率为20．06％。502例接受地贫基因诊断，411例确诊为地中海贫血，检出率为81．87％。总检出地贫基因携带率（包括仅和B地贫）为16．42％，其中α地贫基因检出率为9．44％，基因型-SEA/αα、--SEA／αα^cs、SEA／α^3.7这三种类型的比例最高，共占72．38％；B地贫基因检出率为8．15％，共检出8种B地贫基因类型，其中CD41—42（-TTCT）、TATAbox一28（A→G）、CD17（A→T）、IVS-Ⅱ654（c→T）及CD71—72（＋A）5种突变类型占98．04％。检出α和β地贫双重杂舍子32例。结论两广是地中海贫血的高发区，应加强对人群进行地贫的血液学筛查和基因诊断，本研究同时进行仅地贫的缺失型与非缺失型及β地贫的基因诊断，有效地提高地贫的检出率，对优生优育、干预重症地贫儿出生有着重要作用。

The incidence of thalassemia and analysis of thalassemia gene mutation in the border area of Guangdong and Guangxi

Objective： To investigate gene frequencies and distribution of thalassemia and to prevent the birth rates of thalassemia in the border area of Guangdong and Guangxi. Methods： MCV, erythrocyte fragility test and hemoglobin electrophoresis were used to screen the thalassemia with 2503 samples. The positive samples were tested for the gene analysis by using gap - PCR and PCR/RDB technology. Results： 502 samples were Screened among the 2503 samples which meant the incidence of thalassemia was 20. 06%. 411 samples were final diagnosed from 502 screening positive samples of thalassemia, Then the thalassemia carrier rate including alpha and beta thalassemia was as high as 16.42 %. Among them, the alpha thalassemia carrier rate was 9.44%. The highest proportion of genotype -SEA/αα、--SEA/αα^cs、SEA/α^3.7 were accounted for 72. 38% . 8. 15% of beta thalassemia gene with 8 different types of mutations were found. The five most common mutations CD41 - 42, - 28, IVS - Ⅱ - 654, CD71 - 72 were accounted for 98.04%. 32 samples were detected to be combined with α and β thalassemia double heterozygotes. Conclusion： The border area of Guangdong and Guangxi is one of the area with high incidence of thalassemia. It is recommended that more attention should be paid to detect the carriers of thalassemia by hematological screening and common gene diagnosis in the area with high incidence of thalassemia. The study detected deletion and non - deletion of alpha thalassemia and beta thalassemia gene diagnosis at the same time, thus 4t is effective to improve the detection rate of thalassemia and has an important meaning to procreate prepotency and to prevent the birth rates of thalassemia.