The screening and gene analysis of thalassemia in Heyuan prefecture

Objective:Researching the morbidity and genetype distribution of Thalassemia in Heyuan prefecture is to strengthen the awarness of Thalassemia screening and improve the quality of the population in this region.Methods:6470 cases of prenatal care or pre-marital check were diagnosed by routine testing of blood,RBC osmotic fragility test,hemoglobin electrophoresis experiment and so on.And then according to the results,we made a preliminary judge to know the people whether is a Thalassemia of patient or not and its type.Of which 976 cases of Thalassemia were diagnostic by PCR.Results:There were 6470 cases in 1545 samples of Thalassemia,the detection rate is 23.88%,including α-Thalassemia(1104 cases),HbH disease(27 cases),β-Thalassemia(414 cases),abnormal hemoglobin disease(27 cases).The result of PCR show that detection ratio of α-thalassemia is 73.23% and detection ratio of β-thalassemia is 95.83%.Conclusion: Detection rate of the Thalassemia in Heyuan prefecture is higher than another region,α-thalassemia is particularly highter than β-thalassemia.By this way,we should increase the intensity of Thalassemia screening and avoid the birth of children with heavy Thalassemia through rational marriage,genetic counseling,prenatal diagnosis and another measures.It is very important for prenatal and postnatal care.