Gene mutation type analysis of thalassemia in Taishan area
10.3969/j.issn.1673-4130.2016.08.021
- VernacularTitle:台山地区珠蛋白生成障碍性贫血基因突变类型分析
- Author:
Di CHE
;
Ying WU
- Publication Type:Journal Article
- Keywords:
thalassemia;
gene mutation;
constituent ratio
- From:
International Journal of Laboratory Medicine
2016;37(8):1067-1069
- CountryChina
- Language:Chinese
-
Abstract:
Objective To learn the gene mutation type and prevalence of thalassemia in the Taishan area and to provide basis for the prevention and treatment of local thalassemia .Methods 1 383 patients who visited the hospital for thalassemia genetic test from January to December 2014 were enrolled for this study .α‐andβ‐genes were determined by using PCR and membrane hybridization methods .Results Of the 1 383 patients ,595 were diagnosed with thalassemia (positive rate was 43 .02% ) ,including 386 cases (27 .91% ) of α‐thalassemia ,183 cases(13 .23% ) of β‐thalassemia and 26 cases(1 .88% ) of αβ‐thalassemia .- -SEA/αα(accounted for 64 .25% ) was the major genotype of α‐thalassemia ,the major genotype of β‐thalassemia wasβ41 -42/β(accounted for 28 .42% ) , and - -SEA/αα,β41 -42/βwas the major genotype of αβ‐thalassemia (accounted for 19 .23% ) .Conclusion Taishan is located in a high risk area of thalassemia ,it is of great significance to perform genetic diagnosis of thalassemia among reproductive population so as to reduce the birth rate of children with thalassemia in the area .
