Acquired Glucose-6-Phosphate Dehydrogenase Deficiency

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary condition caused by mutations on chromosome X and is transmitted by a sex-linked inheritance. However, impairment of G6PD activity may result from biochemical mechanisms that are able to inhibit the enzyme in specific clinical conditions in the absence of a structural gene-level defect. In this narrative review, a number of clinical settings associated with an “acquired” G6PD deficiency, phenotypically undistinguishable from the primary deficiency, as well as the mechanisms involved, were examined. Hyperaldosteronism and diabetes are the most common culprits of acquired G6PD deficiency. Additional endocrine and metabolic conditions may cause G6PD deficiency in both hospitalized and outpatients. Contrary to the inherited defect, acquired G6PD deficiency is a condition that is potentially curable by removing the factor responsible for enzyme inhibition. Awareness regarding acquired G6PD deficiency by physicians might result in improved recognition and treatment.

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China

“…The top six prevalent genotypes identified represented 90.84% (2,905/3,198) of the total in the Fujian province, which is equivalent to the proportions in the provinces of Guangxi, Guangdong, and Hainan ( Liu et al, 2020 ). For the newborns with G6PD deficiency but no identifiable variants, in addition to using second-generation sequencing methods for detection in the future studies, we will also strengthen follow-up work on clinical manifestations and related biochemical testing to determine whether there is existence of an acquired form of G6PD deficiency ( Pes and Dore, 2022 ). Furthermore, the frequency of genotypes with c.1388G > A, c.1024C > T, and c.871G > A was found to be higher in male hemizygotes in the Fujian province than those in female heterozygotes, while the frequency of genotypes with c.1376G > T was lower in male hemizygotes.…”

Genetic Factors Causing the Prevalence of Anemia in Young Girls and Stunting in Toddlers: A Systematic Literature Review

“…Types Of Anemia That Can Be Inherited Genetically (Esposito et al, 2022); (Moreno et al, 2021); (Gerrard & Dawson, 2022); (Uusimaa et al, 2022) Congenital Pernicious Anemia (Pes & Dore, 2022); (Barrera-Reyes & Tejero, 2019); (Lee et al, 2018); (Geck et al, 2023) G6PD deficiency (Wu et al, 2021);(Zhou et al, 2023); (He et al, 2018); (Sahile Kebede et al, 2022) Congenital Spherocytosis (Esoh & Wonkam, 2021); (Cordovil, 2018) Sickle Cell Anemia (Origa, 2017); (Brancaleoni et al, 2016); (Ferih et al, 2023); (Ali Al-Barazanchi et al, 2021) Thalassemia Types of anemia that can be inherited genetically, namely Pernicious anemia: This is a rare type of anemia and is caused by abnormalities a person is born with, namely not having the ability to produce intrinsic factor (a protein in the stomach that helps the absorption of vitamin B12). Vitamin B12 plays a role in making red blood cells, without which the body does not have a sufficient number of new red blood cells.…”