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Updated: Mar 26, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric
Alejandro Chaves1, Silvia Eandi Eberle1, Lucas Defelipe2
1Servicio de Hematología-Oncología, Hospital de Pediatría "Prof. Dr. Juan P. Garrahan,", Combate de los Pozos 1881, (C1245AAM) Buenos Aires, Argentina.
Objective:
The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an x-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation.
Method:
Probands and their relatives underwent clinical, biochemical, and molecular assessment.
Results:
Two novel DNA variants, c.995C>T and c.1226C>A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling.
Conclusions:
The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed.
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