α-地中海贫血表型儿童基因诊断分析

Analysis on gene diagnosis of children with α- thalassemia phenotype

目的：了解该地区α-地中海贫血表型儿童中地中海贫血发生情况、基因突变类型,比较不同筛查方法的确诊率。方法：采用血红蛋白（Hb）分析或（和）血液学指标筛查α-地中海贫血,对2 930例α-地中海贫血表型儿童进行基因检测,分析不同筛查方法确诊率。结果：2 930例α-地中海贫血表型儿童中,确诊α-地中海贫血2 563例（87.47%）,包括Hb Bart＇s综合征2例（0.08%）,Hb H病365例（14.24%）,α-地中海贫血基因携带者2 196例（85.68%）。检出6种基因突变、24种基因类型,以--sea（52.52%）、-α3.7（11.63%）和αCSα（7.80%）突变杂合子最常见。α-地中海贫血表型新生儿基因确诊率（95.00%）高于α-地中海贫血表型28天-6个月婴幼儿（87.25%）和6个月-15岁儿童（83.81%）,差异有统计学意义（P〈0.05）。结论：该地区儿童地中海贫血基因类型多样,中重型α-地中海贫血发生率高,应加强地中海贫血干预工作,以避免重型患儿的出生。

Objective： To understand the prevalence of thalassemia and types of gene mutation in the children with α- thalassemia phenotype,compare the diagnostic rates of different screening methods. Methods： α- thalassemia was screened by analyzing hemoglobin and hematological indexes,gene detection was performed among 2 930 children with α- thalassemia phenotype,the diagnostic rates of different screening methods were analyzed. Results： Among 2 930 children with α- thalassemia phenotype,2 563 children（ 87. 47%） were diagnosed as α- thalassemia definitely,including 2 children（ 0. 08%） with Hb Bart＇s syndrome,365 children（ 14. 24%） with Hb H disease and 2 196 α- thalassemia gene carriers（ 85. 68%）. Six kinds of gene mutation（ 24 types） were detected,-- sea（ 52. 52%）,- α3. 7（ 11. 63%） and αCSα（ 7. 80%） heterozygous mutations were common types. The diagnostic rate of α- thalassemia phenotype in neonates was 95. 00%,which was statistically significantly higher than those in infants aged from 28 days to 6 months（ 87. 25%） and children aged from 6 months to 15 years（ 83. 81%）（ P〈0. 05）. Conclusion： The genotypes of thalassemia in children are various,the incidence rate of moderate to severe thalassemia is high,intervention of thalassemia should be enhanced to avoid the birth of children with severe thalassemia.