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目的了解琼海地区育龄人群中α、β地中海贫血基因型的分布情况。方法对育龄夫妇采用红细胞平均体积(MCV)和红细胞脆性一管法进行地中海贫血筛查,对992例筛查阳性者采用PCR及反向斑点杂交技术进行α、β地中海贫血基因型诊断。结果从11 753人中筛选出阳性者992人,阳性检出率为8.44%,其中检出α地中海贫血647例,基因携带率为5.50%,常见的α地中海贫血基因型--SEA/αα、-α3.7/αα、-α4.2/αα构成比例分别为55.79%、16.85%、10.36%。检出β地中海贫血基因型9种共302例,基因携带率为2.57%。比较常见的5种基因型为β41-42(-TCTT)、β-28(A→T)、βCD17(A→T)、βIVS-Ⅱ-654(C→T)、βCD71-72(+A),共占97.02%。在本次筛查中,汉族地中海贫血基因携带率为6.41%,苗族为15.63%,黎族为27.25%,壮族10.53%。结论琼海地区地中海贫血基因携带率高,针对育龄人群基因筛查对降低地中海贫血患儿出生率,提高人口质量具有重要意义。
Objective To understand the distribution of α, β thalassemia in the reproductive age population in Qionghai area. Methods The couples of childbearing age were screened for thalassemia by the mean volume of erythrocytes (MCV) and red blood cell fragile tube method, and the genotypes of α, β thalassemia were detected by PCR and reverse dot blot hybridization in 992 screening positive individuals. Results A total of 992 positive samples were screened from 11 753 individuals. The positive detection rate was 8.44%. Among them, 647 cases of α-thalassemia were detected, the gene carrying rate was 5.50%. The common α-thalassemia genotype - SEA / αα, -α3.7 / αα and -α4.2 / αα were 55.79%, 16.85% and 10.36%, respectively. A total of 302 β-thalassemia genotypes were detected, with a gene-carrying rate of 2.57%. The most common five genotypes were β41-42 (-TCTT), β-28 (A → T), βCD17 (A → T), βIVS-Ⅱ-654 (C → T), βCD71-72 (+ A) , Accounting for a total of 97.02%. In this screening, Han thalassemia gene carrier rate was 6.41%, Miao 15.63%, Li ethnic 27.25%, Zhuang 10.53%. Conclusion The prevalence of thalassemia gene in Qionghai area is high, and gene screening for people of childbearing age is of great importance in reducing the birth rate and improving population quality of children with thalassemia.