Prevalence of G6PD deficiency and hemoglobinopathies on malaria-endemic Bioko Island,Equatorial Guinea:implications for public health strategies in the region
作者单位：Department of Internal MedicineFirst Hospital Affiliated with the Medical College of Shantou University Central LaboratoryChaozhou Central Hospital Affiliated to Southern Medical University
会议名称：《广东省遗传学会第九届代表大会暨学术研讨会》
会议日期：2014年
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：China Postdoctoral Science Foundation(contract/grant no.2013M542195 to Min Lin) Medical Science Fund of Guangdong Province(contract/grant no.A2013780 to Jiang-Tao Chen)
关 键 词：G6PD deficeny hemoglobinopathies Bioko Island
摘 要：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 AT),HbC(c.19 GA),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 GA + c.376 AG) 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.