26335例地中海贫血监测结果分析

Screening of Thalassanemia: 26,335 Cases .

目的:干预地中海贫血(简称地贫)出生缺陷的发生。方法:对26335例育龄人群进行地贫筛查,测定受检者红细胞脆性及微量血红蛋白(Hb)电泳。然后对筛查异常者进行复查,做HbA2、HbF、HbH定量测定及应用聚丙烯酰胺凝胶电泳进行肽链分析检测ζ链。HbA2和(或)HbF升高者为β地贫,ζ链阳性者为α地贫。夫妇双方均患α或β地贫者为高危夫妇,做产前诊断。结果:26 335例受检者中筛查阳性7 376例,接受复查的4 849例中查出地贫患者2 907人;高危夫妇402对,接受地贫产前诊断235对,检出中、重型地贫胎儿45例(已全部终止妊娠)。结论:广西是地贫的高发区,应在育龄人群中开展普查,对高危夫妇进行产前诊断干预地贫儿的出生,意义重大。

Objective; To prevent thalassanemia of birth defects. Methods; 26,335 adults at the age of child-bearing received screening of thalassanemia whose erythrocyte fragility was measured, and trace hemoglobin electrophoresis was done. Those with abnormal erythrocyte fragility and hemoglobin were reexamined with HbA2, HbF and HbH quantitatively measured. At the same time, chain ?was checked and peptide chain was studied by the application of polyacrylamide gel elec-trophoresis. β-thalassanemia showed HbA2 and/or HbF, and α-thalassanemia showed masculine chain ζ. A couple who both had a-thalassanemia or β-thalassanemia were dangerous and need to receive a prenatal diagnosis. Results; Of 26,335 cases, 7,376 ones showed masculine character. There were 2,907 persons who had thalassanemia in 4,849 persons receiving reexam-ination, 402 couples who both had a-thalassanemia or β-thalassanemia, and 235 couples who receive a prenatal diagnosis, 45 cases of fetuses with medium and severe thalassanemia. Conclusion: Guangxi is one of provinces where thalassanemia appeared frequently. It is necessary to carry out the general examination of thalassanemia, to do a prenatal diagnosis for high risk couples.