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目的调查佛山地区孕期夫妇及胎儿地中海贫血(地贫)的发生率、基因突变类型及构成比。方法对以MCV和MCH进行筛查地贫阳性者,采用高效液相色谱技术(HPLC)检测血红蛋白(Hb)组分,若HbA2>3.5%或HbF>2.0%者采用反向点杂交技术进行β地贫的基因检测,同时对所有地贫筛查阳性及α地贫东南亚缺失型基因携带者的配偶采用GAP-PCR进行α地贫检测,对夫妻双方均为同类型地贫基因携带者的高风险胎儿进行产前基因诊断。结果在5102例标本中检出地贫基因携带者600例,地贫总发生率为11.76%。其中α地贫391例,发生率为7.66%,β地贫209例,发生率为4.10%,α地贫复合β地贫27例,发生率为0.53%。在α地贫中,东南亚缺失型(--SEA/αα)占75.19%,左、右缺失型(αα/-α4.2和αα/-α3.7)占21.22%;β地贫中,β41-42占42.11%,β654次之,占30.62%,β17为10.53%和β-28为9.09%。夫妇为同一类地贫基因型的高风险胎儿98例,发生率1.92%。对98例产前基因诊断,结果正常胎儿23例;α地贫45例,β地贫30例。结论阐明佛山地区孕期夫妇携带α和β地贫基因的发生率、基因突变类型以及通过产前遗传咨询,有效控制重型地贫患儿的出生,对于实行优生优育,提高人口素质具有重大意义。
Objective To investigate the prevalence of thalassemia (thalassemia) in couples and fetuses in Foshan during pregnancy, the types of genetic mutations and their constituent ratios. Methods The hemoglobin (Hb) was detected by high performance liquid chromatography (HPLC). When the HbA2> 3.5% or HbF> 2.0% were detected by reverse dot blot Thalassemia gene test, while all thalassemia screening positive and thalassemia in Southeast Asia missing gene carriers of spouses using GAP-PCR for detection of alpha thalassemia, both husband and wife are carriers of the same type thalassemia high Risk fetus for prenatal genetic diagnosis. Results In 5102 cases, 600 cases of thalassemia carriers were detected, the total incidence of thalassemia was 11.76%. Among them, there were 391 cases of α thalassemia, the incidence rate was 7.66%, 209 cases of β-thalassemia was found, the incidence rate was 4.10%. There were 27 cases of α-thalassemia β-thalassemia, the incidence rate was 0.53%. In α-thalassemia, the deletion type of SEA (--SEA / αα) accounted for 75.19%, and left and right deletion type (αα / -α4.2 and αα / -α3.7) accounted for 21.22% -42 accounted for 42.11%, β654 times, accounting for 30.62%, β17 10.53% and β-28 9.09%. 98 couples of high-risk fetuses with the same type of thalassemia were found, the incidence rate was 1.92%. 98 cases of prenatal gene diagnosis, the results of normal fetus in 23 cases; 45 cases of α-thalassemia, β-thalassemia 30 cases. Conclusions It is of great significance to explain the incidence of α and β thalassemia carriers, types of gene mutations and the prenatal genetic counseling in Foshan during pregnancy to effectively control the birth of children with severe thalassemia. This is of great significance for the implementation of prenatal and postnatal care and enhancement of population quality.