Background To propose effective public health strategies for using antimalarial drugs and prevention and control of genetic disorders,reliable epidemiological information on local population is *** study aimed to asse...
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Background To propose effective public health strategies for using antimalarial drugs and prevention and control of genetic disorders,reliable epidemiological information on local population is *** study aimed to assess the prevalence and health impact of glucose-6-phosphate dehydrogenase(G6PD) deficiency and hemoglobinopathies in the population on malaria-endemic Bioko Island,Equatorial *** Blood samples from 4,144 unrelated subjects were screened for G6 PD deficieny by fluorescence spot test,high-resolution melting assay and PCR-DNA sequencing from April 2012 to May *** addition,1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S(HbS;c.20 A>T),HbC(c.19 G>A),and a-thalassemia(a-thal) deletion by complete blood count,PCR-DNA sequencing and reverse dot blot genechip *** The prevalence of malaria and anemia was 12.6%(522/4,144) and 32.8%(389/1,186),***,8.7%people(359/4,144) were G6PD-deficient,9.0%(249/2,758) males and 7.9%(110/1,386)*** A" variants(c.202 G>A + c.376 A>G) were detected in 99.2%of G6PD-deficient individuals(356/359).Among the 1,186 subjects screened for hemoglobinopathies,201 were HbS heterozygotes,35 HbC heterozygotes,and 2 HbCS double heterozygotes;452 showed heterozygous-a3'7 kb deletion and 85 homozygous-a3'7 kb *** overall allele frequencies for these disorders were HbS,17.1%(n=203);HbC,3.1%(n=37);and a-thal,45.3%(n=622).Conclusions High G6 PD deficiency in this population indicated that diagnosis and management of G6 PD deficiency is crucial for current malaria control and *** should be tested for G6 PD deficiency before antimalarial *** newborn screening,prenatal screening and counseling for these genetic disorders,especially HbS,are needed in the region.
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