Molecular detection and haematological analysis of α β-thalassemia.

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.