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Title: Molecular characterization of Glucose-6-Phosphate Dehydrogenase deficiency specific variants among selected populations in malaria endemic areas of Ethiopia.
???metadata.dc.contributor.*???: Daniel Seifu (PhD)
Getachew, Abebe
Keywords: Glucose 6-phosphate Dehydrogenase deficiency, Polymerase Chain Reaction, Restriction Fragment Length Polymorphism, Malaria, Primaquine, Ethiopia.
Issue Date: 26-Nov-2015
Publisher: AAU
Abstract: Background: Glucose 6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked hereditary genetic defect, affects an estimated 400 million people worldwide. Severe clinical manifestation associated with G6PDd (e.g., chronic hemolytic anemia) depends on the type of G6PD molecular variants and exposure to hemolytic triggers (e.g., antimalarial like Primaquine). However, scarce studies on G6PDd renders the use of Primaquine for effective therapeutic treatment of malaria. Objective: To determine the availability and characterize selected molecular variants of G6PDd specific genes among selected populations in malaria endemic area of Ethiopia. Method: A cross sectional study was conducted among selected populations in malaria endemic areas of Ethiopia from July 30, 2014 to January 30, 2015. A total of 523 dried blood spot samples were randomly selected from stored samples of national malaria indicator survey of 2011. Polymerase chain reaction and restricted fragment length polymorphism technique was applied to characterize G6PDd variants as G6PD*A, G6PD*A- and/or G6PD*Mediterranean. Binary logistic regression was applied to see association (P<0.05 is significant) among different parameters. Result: Of 523 studied dried blood spot samples, 514 (98.28%) had G6PD genotype available, among which G6PDd were detected on 46 (9.0%) samples. G6PD*A (100%) was the only genotype characterized, while neither G6PD*A- nor G6PD*Mediterranean genotypes were detected. Of all 46 (9.0%) G6PD*A mutation, 25 (4.9%) were male hemizygous, 4 (0.8%) were homozygous females and 17 (3.3%) were heterozygous females. The result also showed G6PDd prevalence variation among regions with 12.06% in Southern Nations Nationalities Peoples, 10.62% in Tigray, 8.51% in Somali, 6.41% in Amhara and 5.26% in Afar. However; there was no statistical significant difference between G6PDd and regions (P>0.05). Conclusion: G6PD*A variant was the only G6PDd genotype detected in this study. G6PD*A variant has almost (90%) the same enzymatic activities with the wild type. Therefore; this result supports the safe use of primaquine, especially the single low dose for transmission interruption of Plasmodium falciparum gametocyte and radical cure of Plasmodium vivax, as a part of malaria elimination toolkit, among selected populations in malaria endemic areas of Ethiopia.
Description: A Thesis submitted to Addis Ababa University, School of Graduate Studies, Department of Medical Laboratory Sciences in Partial fulfillment of the requirements for the Master of Science Degree in Clinical Laboratory Science (Clinical Chemistry Specialty Track).
Appears in Collections:Thesis - Medical Laboratory

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