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

Abstract

  • © 2019 - IOS Press and the authors. All rights reserved.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 retrospetive 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.

Publication date

  • January 1, 2019