Screening Study For Thalassemia In Reproductive Adults Of Yunnan Province

Objective:The aim of this study was to explore the screening strategy of thalassemia in reproductive adults in Yunnan Province. To further understand the positive rate in different ethnic minority group in different region.To compare the difference of hemoglobin concentration in different altitude region.Method:The hematological routine test and capillary electrophoresis test were applied on people who check for the preconception counselling or prenatal diagnosis. The information and test results were recorded. The positive rate was calculated according to different ethnic groups in different region. Mutations of the a-and^-hemoglobin genes were tested in some positive cases.Result:For5450examinees,570cases were suspected as thalassemia carriers or patients(10.46%), including213cases of α-thalassemia (3.9%) and357cases of β-thalassemia (6.55%), respectively. The highest positive rates of thalassemia were Dai (29.3%), followed by Zhuang (25.9%), Lisu (25.0%), Buyi (13.3%), Hui (10.5%), Bai (9.48%), Yi (9.26%). And the highest carrier rates regions were Dehong (25.0%), Xishuangbanna(21.7%), and Wenshan (20.1%). The highest thalassemia concentration was observed in the people lived in Diqing. The highest positive rate was observecd in the residents lived in the tropic and subtropic of south Yunnan province especially for minority. Four kinds of a-hemoglobin gene mutations,--SEA(67.1%),-α37(17.1%), aaCSa(13.2%),-α4.2(2.6%), were found in90a-thal carriers(40.2%,90/224). Seven kinds of P-hemoglobin gene mutations, CD26(36.7%), followed by CD17(22.5%), CD41-42(20.8%),IVS-Ⅱ-654(14.2%),CD71-72(2.5%),-28(1.7%),CD27/28(1.7%), consisted of56.7%cases in β-thal carriers tested(136/240). Conclusion:Thalassemia is highly prevenlent in Yunnan. The highest positive rate was observecd in the residents lived in the tropic and subtropic of south Yunnan province especially for minority. The method combined with hematological routine test and capillary electrophoresis for thalassemia can be applied to screening mutation carriers efficiently. The hemoglobin concentration is higher with the altitude increasing. The genetic counselling and prenatal diagnosis in preconception or pregnancy may effectively reduce the number of living-born infants with thalassemia major.