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目的分析α-地中海贫血患者α-地中海贫血基因的携带率,以预防地中海贫血重症患儿的出生。方法采用α-地中海贫血检测试剂盒对88例α-地中海贫血患者进行基因诊断。结果 -SEA缺失型杂合子(--SEA/αα)52例占59.09%,未检测到-α3.7、-α4.和-αSEA缺失型31例占35.23%,-α3.7缺失型杂合子(αα/-α3.7)2例占2.27%,Bart’s水肿胎2例占2.27%,HbH(--SEA/-α3.7)1例占1.14%。结论基因诊断对优生优育、干预地贫儿出生有着重要作用。
Objective To analyze the prevalence of α-thalassemia gene in patients with α-thalassemia major and to prevent the birth of children with severe thalassemia. Methods Alpha-thalassemia test kit was used to diagnose 88 cases of α-thalassemia. Results-52 cases of -SEA deletion-type heterozygotes (--SEA / αα) accounted for 59.09%, no -α3.7, -α4 and -αSEA deletion type 31 cases accounted for 35.23%, - α3.7 deletion heterozygote (αα / -α3.7) 2 cases accounted for 2.27%, Bart’s hydropic fetal 2 cases accounted for 2.27%, HbH (- SEA / -α3.7) 1 cases accounted for 1.14%. Conclusion Gene diagnosis of prenatal and postnatal care, intervention of impoverished children play an important role.