Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

Abstract excerpt

Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α-thalassemia and β-thalassemia were 8.91% and 3.36%, respectively....

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