【摘要】 目的通过对αβ复合型地中海贫血的分子基因型的检测及血液学的表型分析,了解其基因分布状况及发生率。方法采用单管多重缺口-PCR法和反向膜杂交法,对396例地中海贫血筛查阳性的样本进行α地中海贫血和β地中海贫血的基因诊断。结果在396例样本中,检出单纯性α地中海贫血109例(27.5%),单纯性β地中海贫血115例(29.0%),αβ复合型地中海贫血26例(6.57%)。αβ复合型地中海贫血占β地中海贫血的18.44%。αβ复合型地中海贫血共有7种基因型,涉及5种β地中海贫血突变类型(CD41-42、IVS-2-654、TA;TA;box-28、CD71-72、43)和2种α地中海贫血缺失类型(α地中海贫血-1基因和α地中海贫血-2基因)。红细胞参数(MCV、MCH及Hb)在αβ复合型地中海贫血与单纯性β-地中海贫血之间的差异不具有统计学意义(P>0.05)。结论αβ复合型地中海贫血双重杂合子的发生率较高,且缺乏特异性的血液学指标。对β地中海贫血筛查阳性的病人应同时进行α和β地中海贫血基因诊断,以减少αβ复合型地中海贫血漏检的可能,以便下一步正确地指导遗传咨询和产前诊断。更多还原

【Abstract】 Objective:To investigate the prevalence and genotype distribution of α β-thalassemia by using molecular detection and haematological methods.Methods:396 cases with screening positive in thalassemia were given gene diagnosis of α-thalassemia and β-thalassemia by gap-PCR and reverse dot blot hybridization.Results:There were 109 cases of α-thalassemia,115 cases of β-thalassemia and 26 cases of α β-thalassemia,which is 18.44% of α β-thalassemia in β-thalassemia.There were 7 geneypes in α β-thalassemia,involving 5 β-thalassemia geneypes and 2 α-thalassemia geneypes.No significant differences were found between β-thalassemia and α β-thalassemia in some RBC parameters.Conclusion:The incidence of α β-thalassem is frequent.The hematological analysis can not give specificity for diagnosing α β-thalassemia.Patients with screening positive in β thalassemia should be given gene diagnosis of α and β thalassemia.It is more useful for genetic counselling and prenatal diagnosis of this disease.更多还原