肇庆地区人群地中海贫血基因型的分布及其特点

Distribution and Characteristics of the Mediterranean-anemia Genotype in the Population of Zhaoqing Area

目的调查肇庆地区人群地中海贫血基因携带状况及分布特点,分析其红细胞参数及血红蛋白电泳的特点,为更好的筛查和预防地贫提供临床依据。方法采用跨越断裂点多聚酶法链反应(gap-PCR)和PCR-膜反向点杂交(PCR-RDB)技术对经地中海贫血筛查阳性的样本进行基因诊断。结果该人群地中海贫血筛查阳性率35.4%(2523/7120),638例被确诊为地贫,其中α-地贫占59.9%(382/638),β-地贫占34.8%(222/638),αβ复合型地贫占5.3%(34/638)。结论肇庆地区人群地中海贫血的发病率较高,但对地中海贫血的认知不高;复合型地贫多见,因此,应加强地贫宣教工作,重视该人群婚前和产前地中海贫血筛查和确诊。

Objective To provide references for screening and prophylaxis of Mediterranean anemia through investigating the distribution and characteristics of the Mediterranean- anemia genotype in the population of Zhaoqing Area and analyzing the characteristics of the red blood cell parameters and hemoglobin electrophoresis. Methods Screening positive samples were identified by the breaking point polymerase chain reaction（ gap- PCR） and the PCR membrane reverse dot blot（ PCR- RDB）. Results The positive rate of the Mediterranean anemia in Zhaoqing population was 35. 4%（ 2523 /7120）. 638 case was identified as Mediterranean anemia,including 59. 9% α-Mediterranean anemia（ 382 /638）,34. 8% β- Mediterranean anemia（ 222 /638） and 5. 3% αβ Mediterranean（ 34 /638）. Conclusion There a high prevalence of thalassemia in Zhaoqing population,but the cognition of Mediterranean anemia is not enough. The compound thalassemia is common. Therefore,the propaganda and education of thalassemia should be strengthened,and Mediterranean anemia screening and diagnosing before marriage should be paid more attention.