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目的了解不同人群地中海贫血的分布情况。方法对本院就诊贫血患者、孕产妇、婚检人群及新生儿共5010例,采用红细胞平均体积、红细胞脆性及血红蛋白电泳三种方法联合检测地中海贫血;对其中150例经基因分析确诊患者的基因型进行分析。结果 5010例受检者中检出地中海贫血864例,阳性率为17.25%(864/5010),以贫血患者阳性率最高为35.00%左右,明显高于其余三组的10.94%～19.07%(P<0.05),其他血红蛋白疾病19例,阳性率为0.38%(19/5010)。150例基因分型地中海贫血患者中,α地贫以-SEA/αα基因型为主,占92.41%;β地中海贫血以41-42M杂合子为主,占50.00%。结论本地区属地贫高发区,不同人群α、β地中海贫血检出率各有高低,本研究结果为开展遗传咨询及产前诊断提供了有价值的实验室资料,对有效地预防中、重型地中海贫血儿出生具有重大意义。
Objective To understand the distribution of thalassemia in different populations. Methods A total of 5010 cases of anemia patients, pregnant women, premarital groups and newborns were treated in our hospital. Thalassemia was detected by the average volume of erythrocytes, erythrocyte fragility and hemoglobin electrophoresis. The genotypes of 150 patients diagnosed by gene analysis Analyze. Results A total of 864 cases of thalassemia were detected in 5010 subjects, the positive rate was 17.25% (864/5010). The highest positive rate of anemia was 35.00%, which was significantly higher than that of the other three groups (10.94% -19.07%, P <0.05). The other hemoglobin diseases were 19 cases, the positive rate was 0.38% (19/5010). Of the 150 cases of genotyping thalassemia, α-thalassemia major was -SEA / αα genotype, accounting for 92.41%; β-thalassemia major was 41-42M heterozygote, accounting for 50.00%. Conclusions The detection rates of α, β thalassemia in different populations are high and low in this area. The results of this study provide valuable laboratory data for genetic counseling and prenatal diagnosis, and are of great value in the prevention of medium and heavy Mediterranean The birth of an anemic child is of great significance.