黄石地区新生儿地中海贫血基因检测分析

Analysis of Neonates’ Thalassemia Gene Detection in Huangshi

为切实提高出生人口质量,分析了黄石地区新生儿的地中海贫血基因突变类型和频率,为地中海贫血的产前诊断和遗传咨询提供参考。采用毛细管血红蛋白电泳法对51 389例新生儿进行地中海贫血初步筛查,对筛查结果阳性者进行地中海贫血基因突变检测。检测结果为:黄石地区新生儿地中海贫血初筛阳性率1.36%,其中α地中海贫血初筛阳性率0.91%,β地中海贫血初筛阳性率0.45%;α地中海贫血基因检测与初筛符合率82.13%,β地中海贫血基因检测与初筛符合率57.39%。α地中海贫血基因检出率男、女间差异无统计学意义(x^2=0.179,P>0.05),β地中海贫血基因检出率中女性高于男性(x^2=29.302,P<0.01),α地中海贫血筛查符合率显著高于β地中海贫血(x^2=345.512,P<0.01)。α地中海贫血基因缺失以--SEA/aa所占比例最高,临床表型以轻型、静止型常见;β地中海贫血基因突变以IVS-II-654位点突变所占比例最高。黄石地区新生儿地中海贫血突变类型复杂,应加强对育龄人群及新生儿地中海贫血的筛查,以降低地中海贫血出生缺陷发生率,早期干预治疗。

Objective: to improve the population quality at birth,the prevalence and spectrum of neonatal thalassemia mutations in Huangshi were analyzed to provide a reference for prenatal diagnosis and genetic counseling.Methods:capillary hemoglobin electrophoresis was used in 51 389 newborns’ cord blood for preliminary thalassemia screening,and the thalassemia gene mutation detection was conducted for those with positive results. Results: the positive result rate of the Neonatal thalassemia screening in Huangshi was1.36 %,α-thalassemia 0.91%,β-thalassemia 0.45%;the coincidence rate of α-thalassemia gene detection and preliminary screening was 82.13 %, the coincidence rate of β-thalassemia gene detection and preliminary screening was 57.39 %,and there was no statistical significance difference between male and female in the detection rate of α-thalassemia gene(x^2=0.179, P>0.05),the female of β-thalassemia gene detection rate was higher than that of male(x^2=29.302,P<0.01),the coincidence rate of α-thalassemia screening was significantly higher than that of β-thalassemia(x^2=345.512,P<0.01),the highest portion of gene deletion in α-thalassemia was--SEA/aa,whose clinical phenotypes were in light and stationary forms;IVS-II-654 was the highest portion gene deletion inβ-thalassemia.Conclusion:neonatal thalassemia mutations in Huangshi are complex,Intervention should be necessarily considered to prevent the birth of children with intermedia/major thalassemia.