β-地中海贫血复合α-地中海贫血同时合并葡萄糖6磷酸脱氢酶缺陷症242例血液学分析

Detection and hematological analysis of heterozygotes in 242 patients with β-thalassemia combining deletional α-thalassemia accompanied with G6PD deficiency

目的分析广东地区β-地中海贫血复合α-地中海贫血同时合并葡萄糖6磷酸脱氢酶(G6PD)缺陷症的检出率及其血液学特点。方法对2006年11月至2009年5月经金域医学检验中心基因诊断室通过地中海贫血基因确诊的242例β-地中海贫血复合α-地中海贫血[GAP-PCR法检测α-Thal基因;反向点杂交(RDB)法检测β-Thal基因]通过G6PD/6-磷酸葡萄糖酸脱氢酶(6PGD)两个酶的活性直接比值(定量比值法)来正确判断G6PD是否缺乏,并进行血液学分析。结果 242例β-地中海贫血复合α-地中海贫血当中检测出21例G6PD缺陷症,占8.7%(21/242),β-地中海贫血复合α-地中海贫血同时又合并G6PD缺陷症患者与单纯β-地中海贫血复合α-地中海贫血的各项红细胞参数比较,差异无统计学意义(P>0.05)。结论广东是地中海贫血和G6PD缺陷症的高发区,β-地中海贫血复合α-地中海贫血同时又合并G6PD缺陷症与单纯β-地中海贫血复合α-地中海贫血的血液学表现相似。育龄妇女做地中海贫血检查同时应进行G6PD/6PGD比值法测定,可使部分地中海贫血合并G6PD缺陷女性杂合子避免漏诊。

Objective To analyse the screening rate and hematological characteristics of β-thalassemia combining deletional α-thalassemia accompanied with G6PD deficiency in Guangdong Province. Methods The lack of G6PD was determined by the direct ratio of enzyme activities of G6PD and 6PGD using the 242 samples of β-thalassemia combining deletional α-thalassemia,which were identified by the method of thalassemia genetic testing （α-Thal and β-Thal genes were tested by GAP-PCR and RDB respectively） in the gene department of our Diagnostics Center from November,2006 to May,2009.Then the hematological study was made. Results 21 ones from the 242 samples of β-thalassemia combining deletional α-thalassemia were identified with G6PD deficiency and the ratio was 8.7%（21/242）.All the red blood cell parameters had no significant difference （P〉0.05） between patients of β-thalassemia combining deletional α-thalassemia accompanied with G6PD deficiency and β-thalassemia combining deletional α-thalassemia. Conclusions Our findings indicate that Guangdong Province is the high incidence area of thalassemia and G6PD deficiency.The hematological characteristics of β-thalassemia combining deletional α-thalassemia accompanied with G6PD deficiency is similar with that of β-thalassemia combining deletional α-thalassemia.Both of the ratio of enzyme activities of G6PD and 6PGD and thalassemia should be tested in child bearing-age women,so that it can be avoided that parts of the heterozygote of thalassemia combined G6PD deficiency in women are missed diagnosis.