Fortgeschrittene Techniken in Biologie und Medizin
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Abstrakt

Genetic Variants among Malaria-Suspected Patients with Glucose-6 Phosphate Dehydrogenase Deficiency

Meshesha T Negash, Lemu Golassa, Sisay Dugassa, Sindew Mekasha Feleke, Desalegn Nega, Abnet Abebe, Bacha Mekonen, Boja Dufera, Eugenia Lo, Daniel Kepple, Logan Witherspoon, Tassew Tefera Shenkutie, Aderaw Adamu, Hiwot Amare Hailu, Sileshi Degu, Enirsie Kassie

Background: In Ethiopia, an estimated 68 million people are at risk of malaria–60% caused by Plasmodium falciparum and 40% by Plasmodium vivax. The national elimination program has begun since 2016 with a vision of malaria-free country by 2030. The radical cure of P. Vivax with the drug primaquine is an important component of the elimination strategy. However, Primaquine causes acute hemolytic anemia in glucose-6 phosphate dehydrogenase enzyme deficient patients and is a threat to P. vivax elimination. G6PD is a cytoplasmic enzyme for all human cells that is involved in the pentose phosphate pathway of metabolic reaction and protects red blood cells from cellular oxidative damage by detoxifying free radicals. This study is therefore carried out to determine the G6PD deficiency prevalence among malaria-suspected patients in the study sites.

Methods: Health facility-based cross-sectional study was conducted in 2021 at Shele and Lante health centers in Southern nations and nationalities people region of Ethiopia. A total of 858 self-presented malaria-suspected patients were enrolled in this study. The socio-demographic and clinical information of the study participants were collected using a pre-validated questionnaire, entered into Epi Info^™ 7 software, and analyzed using SPSS V.20 statistical software. Finger prick blood samples were collected for onsite Care START G6PD biosensor analyzer test, malaria smear microscopy, and Dried Blood Spot (DBS). The DBS samples were used for molecular confirmation of G6PD deficiency.

Results: From a total of 858 study participants enrolled in the study 49.3% (423) were males with the median and interquartile age range of 26 and 21 years, respectively. Of all the study participants, 14.3%, 9.3%, and 4.1% were smear-positive by microscopy for P. falciparum, P. vivax, and mixed parasites, respectively. The phenotypic Care START biosensor analyzer G6PD deficiency rate was 4.8% (41/858) while the molecular genotyping results analyzed in selected 13 patients have shown G6PD gene mutation in 10 (76.9%) of the samples. Particularly G267+119C/T mutations were seen in 9 of 13 (69.2%) while A376G, and G1116A were seen in 3/13 (23.1%) participants equally. In addition, new mutations such as A376T (A→T) in 2/13 and G1116T (G→T) in 1/13 of participants were also identified.

Conclusion: The result implied that G6PD deficiency among the study participants is not significantly high. In addition, the G267+119C/T mutation was the most frequent variant reported in this study. Therefore, it is recommended to consider hemolysis risk while prescribing the primaquine drug in the study area.