{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T11:35:20Z","timestamp":1777376120384,"version":"3.51.4"},"reference-count":22,"publisher":"American Society of Tropical Medicine and Hygiene","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,10]]},"abstract":"<jats:p>Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked erythrocyte enzyme disorder with relevance to malaria treatment policy. Treatment with the antimalarial primaquine can result in hemolytic anemia in G6PD-deficient patients. With increased interest in primaquine use, it is important to identify G6PD variants in Ethiopia to inform malaria treatment policy. In the present study, mutations in the <jats:italic>G6PD<\/jats:italic> gene are identified in a sample of patients with malaria in Jimma town in southwest Ethiopia. <jats:italic>Plasmodium<\/jats:italic> species of infection were confirmed using polymerase chain reaction (PCR) and gel electrophoresis. PCR and Sanger sequencing were performed to observe a portion of the <jats:italic>G6PD<\/jats:italic> gene where the common <jats:italic>G6PD<\/jats:italic> mutations (A376G, G202A, and C563T) are found. Molecular analysis revealed that most of the samples were single <jats:italic>Plasmodium vivax<\/jats:italic> infections (83.7%). For <jats:italic>G6PD<\/jats:italic> genotyping, A376G was detected in 23.26% of individuals, whereas G202A and C563T were absent. Three other uncommon mutations were identified: rs782669677 (535G\u2192A), rs370658483, (485 + 37 G\u2192T), and a new mutation at chrX:154535443(C\u2192T). Bioinformatic analysis of these mutations\u2019 potential functional impact suggests minimal effect on protein function. The discovery of both common and uncommon <jats:italic>G6PD<\/jats:italic> mutations contributes to the discussion on G6PD deficiency and appropriate primaquine treatment in Ethiopia.<\/jats:p>","DOI":"10.4269\/ajtmh.17-0557","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T07:00:15Z","timestamp":1509433215000},"page":"83-87","source":"Crossref","is-referenced-by-count":14,"title":["Glucose-6-Phosphate Dehydrogenase Deficiency Genetic Variants in Malaria Patients in Southwestern Ethiopia"],"prefix":"10.4269","volume":"98","author":[{"given":"Tamar E.","family":"Carter","sequence":"first","affiliation":[{"name":"Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seleshi Kebede","family":"Mekonnen","sequence":"additional","affiliation":[{"name":"Jimma University, Jimma, Ethiopia;"},{"name":"Armauer Hansen Research Institute, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Lopez","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Bonnell","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lambodhar","family":"Damodaran","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abraham","family":"Aseffa","sequence":"additional","affiliation":[{"name":"Armauer Hansen Research Institute, Addis Ababa, Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel A.","family":"Janies","sequence":"additional","affiliation":[{"name":"Department of Bioinformatics and Genomics, University of North Carolina at Charlotte, Charlotte, North Carolina;"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2795","reference":[{"key":"b1","author":"World Health Organization","year":"2016"},{"key":"b2","series-title":"Malar J","first-page":"250","article-title":"Analysis of asymptomatic and clinical malaria in urban and suburban settings of southwestern Ethiopia in the context of sustaining malaria control and approaching elimination","volume":"15","author":"Zhou","year":"2016"},{"key":"b3","series-title":"Lancet Infect Dis","first-page":"175","article-title":"Primaquine to prevent transmission of falciparum malaria","volume":"13","author":"White","year":"2013"},{"key":"b4","series-title":"Malar J","first-page":"418","article-title":"Rationale for recommending a 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