Glucose-6-phosphate dehydrogenase (G6PD) deficiency phenotype and genotype profile in Kodi Sub-district, West Sumba, Indonesia

Primaquine is the only drug licensed for prevention of relapse in vivax and ovale malarias. It causes mild to severe hemolysis when administered to patients with G6PD deficiency. Because current methods for identifying these patients are not well-suited to care in malaria endemic areas like those in Indonesia, most patients do not receive anti-relapse therapy. This study examined a new rapid diagnostic test for G6PD deficiency (Carestart™ G6PD diagnostic kit, AccessBio, New Jersey) that requires no cold chain, and no specialized training or equipment. A validated ROT for G6PD would permit far broader application of primaquine in the prevention, control and treatment of malaria. The general objective of the work described in this thesis is to evaluate the sensitivity and specificity of a Carestart™ G6PD diagnostic kit and provide G6PD phenotype and genotype profile in Wainyapu Village, Kodi Sub-district, West Sumba District, East Nusa Tenggara Province, Indonesia, an area of hypo- to meso-endemic falciparum and vivax malaria. In summary, the following aspects have been studied: 1. Performance of a G6PD Rapid Diagnostic Test. In November 2010 we surveyed 1090 randomly selected residents of Wainyapu. In the field we conducted the experimental G6PD RDT test alongside (in blinded fashion) a standard qualitative test dye reduction kit, and a surrogate G6PD quantitative gold standard. The results indicate that the RDT has superior specificity and inferior sensitivity compared to the qualitative dye reduction test. 2. G6PD Molecular variant profile of Wainyapu Village, West Sumba, Indonesia. G6PD Molecular profile of the study population was carried out on 30 randomly selected samples consisting of 20 G6PD deficient individuals and 10 G6PD normal individuals. Full exon sequencing revealed the finding of 5 different G6PD variants and evidence on historical antecedents of human migration from these regions to Indonesia in considerable numbers during several thousand years.