G6PD Deficiency and Hemoglobinopathies: Molecular Epidemiological Characteristics and Healthy Effects on Malaria Endemic Bioko Island, Equatorial Guinea.
BACKGROUND
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies were the inherited conditions found mostly in African. However, few epidemiological data of these disorders was reported in Equatorial Guinea (EQG). This study aimed to assess the prevalence and healthy effects of G6PD deficiency and hemoglobinopathies among the people on malaria endemic Bioko Island, EQG.


METHODS
Blood samples from 4,144 unrelated subjects were analyzed for G6PD deficiency by fluorescence spot test (FST), high-resolution melting assay and PCR-DNA sequencing. In addition, 1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S (HbS), HbC, and α-thalassemia deletion by complete blood count, PCR-DNA sequencing and reverse dot blot (RDB).


RESULTS
The prevalence of malaria and anemia was 12.6% (522/4,144) and 32.8% (389/1,186), respectively. Overall, 8.7% subjects (359/4,144) were G6PD-deficient by FST, including 9.0% (249/2,758) males and 7.9% (110/1,386) females. Among the 359 G6PD-deficient individuals molecularly studied, the G6PD A- (G202A/A376G) were detected in 356 cases (99.2%), G6PD Betica (T968C/A376G) in 3 cases. Among the 1,186 subjects, 201 cases were HbS heterozygotes, 35 cases were HbC heterozygotes, and 2 cases were HbCS double heterozygotes; 452 cases showed heterozygous α-thalassemia 3.7 kb deletion (-α3.7 kb deletion) and 85 homozygous - α3.7 kb deletion. The overall allele frequencies were HbS 17.1% (203/1186); HbC, 3.1% (37/1186); and -α3.7 kb deletion 52.4% (622/1186), respectively.


CONCLUSIONS
High G6PD deficiency in this population indicate that diagnosis and management of G6PD deficiency is necessary on Bioko Island. Obligatory newborn screening, prenatal screening and counseling for these genetic disorders, especially HbS, are needed on the island.
Department of Internal Medicine, First Hospital Affiliated to Medical College of Shantou University, Shantou, Guangdong Province, People's Republic of China; Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Min
M
Lin
Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Li Ye
LY
Yang
The Chinese Medical Aid Team to the Republic of Equatorial Guinea, Guangzhou, Guangdong Province, People's Republic of China.
Dong De
DD
Xie
The Chinese Medical Aid Team to the Republic of Equatorial Guinea, Guangzhou, Guangdong Province, People's Republic of China.
Jiang Tao
JT
Chen
Medical Laboratory, Malabo Regional Hospital, Malabo, Equatorial Guinea.
Santiago-m Monte
SM
Nguba
Central Blood Transfusion Service, Malabo Regional Hospital, Malabo, Equatorial Guinea.
Carlos Sala
CS
Ehapo
Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Xiao Fen
XF
Zhan
Central Blood Transfusion Service, Malabo Regional Hospital, Malabo, Equatorial Guinea.
Juan Urbano Monsuy
JU
Eyi
Central Blood Transfusion Service, Malabo Regional Hospital, Malabo, Equatorial Guinea.
Rocio Apicante
RA
Matesa
Central Blood Transfusion Service, Malabo Regional Hospital, Malabo, Equatorial Guinea.
Maximo Miko Ondo
MM
Obono
Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Hui
H
Yang
Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
Hui Tian
HT
Yang
Department of Internal Medicine, First Hospital Affiliated to Medical College of Shantou University, Shantou, Guangdong Province, People's Republic of China.
Ji Dong
JD
Cheng
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D019353:Endemic Diseases / Q000706:statistics & numerical data; D016703:Equatorial Guinea; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology* / Q000235:genetics; D006444:Hemoglobin C / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008288:Malaria / Q000453:epidemiology*; D008297:Male; D008875:Middle Aged; D009154:Mutation
D006451:Hemoglobin, Sickle; D006444:Hemoglobin C; D005954:Glucosephosphate Dehydrogenase