High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition caused primarily by single nucleotide polymorphisms (SNPs). It is the most prevalent enzymopathy globally and directly impacts the ability of red blood cells to respond to oxidative stress. This study aimed to determine the prevalence of G6PD variants in Amazon blood donors.

A cross-sectional study was conducted at the Foundation of Hemotherapy and Hematology of Amazonas (HEMOAM) between January and June of 2024. The study analyzed 5,000 donor samples using the quantitative polymerase chain reaction (qPCR) to detect G6PD genetic variants.

G6PD variants were present in 364 (7.28%) donors, with the most common being c.376A>G (3.82%), c.292G>A (1.92%), and simultaneous c.292G>A/376A>G (0.90%). Other rare variants were also identified, including c.653C>T, c.1093G>A, c.968T>C; c.632A>T; c.1429G>A; c.700G>T; c.1192G>A and c.197T>A/c.202G>A, representing 0.64% of the total. Most donors exhibiting mutations were male (71.7%), with a mean age of 34.1±11.9 years for males and 34.0±10.5 years for females. The most prevalent blood group in both sexes was O+, with a frequency of 59.7% in males and 61.9% in females.

This study constitutes the most extensive molecular testing for G6PD mutations in the state of Amazonas, offering a comprehensive overview of G6PD deficiency (G6PDd) in the region. The estimated prevalence rate of G6PD mutations among Manaus blood donors was 7.28%, which is consistent with other findings in Brazil. In conclusion, G6PDd has the potential to compromise red blood cell quality during storage and their survival post-transfusion. This study enhanced the methods used to identify mutations impacting blood storage, with the aim of improving transfusion safety and efficacy.