Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population

Cantú-Reyna, C.*, Santos-Guzmán, J. , Cruz-Camino, H., Vazquez Cantu, D.L. , Gómez-Gutiérrez, R., Góngora-Cortéz, J.J., Gutiérrez-Castillo, A. | JNPM 2020;

Abstract: Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is a common erythroenzymopathy that needs to be addressed as an important public health issue. Proper population monitoring is needed to anticipate clinical complications. A joint venture between Genomi-k (a Mexican company focused on newborn screening) and several university researchers conducted a retrospective study for D-G6PD based on 156,152 newborn screening reports belonging to the Mexican population comprising a period of 10 years. We identified 540 male newborns affected with this deficiency, representing an incidence of 6.78 cases per 1,000 newborn males. A single double mutation of G202A:A376G was detected in 97.22% of cases. In regions where there is an absence of a national centralized health data for D-G6PD, information from a non-probabilistic large population sample can be used as a national incidence subrogate.

*Corresponding Author: 

Consuelo Cantú-Reyna, Genomi-k S.A.P.I. de C.V. Av. Cerro de las Mitras 2411-A, Col. Obispado, Monterrey, Nuevo León, CP. 64060, Mexico. Email: cocantu@genomi-k.com.​