title: G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Africa is of high prevalence, although precise data are lacking in many individual nations. We investigated 129 unrelated subjects (71 male subjects, 58 female subjects) visiting a teaching hospital in Freetown, Sierra Leone, to collect baseline data on the distribution of G6PD deficiency among respective ethnic groups in the country. We confirmed eight G6PD-deficient male subjects by two formazan-based blood tests (11.3% of the male subjects examined), and also detected the common 376A > G mutation in 11 male subjects and eight female subjects by sequencing exons 3-5 of the G6PD gene. Selected samples were further sequenced for exons 2-13 and introns 5, 7, 8, and 11. Among the deficient male subjects, six were G6PD A- carrying the double mutations (202G > A and 376A > G), all of whom were in the Temne and Mende ethnic groups. Others included A- Betica, and a novel variant having double mutations in exon 5 (311G > A and 376A > G forming 104 Arg > His and 126 Asn > Asp, respectively), which we designate as G6PD Sierra Leone. Subsequent haplotype analysis linked this novel variant to the G6PD A- "family".
authors.affiliation: Division of Medical Zoology, Department of Infection and Immunity, Jichi Medical University, Yakushiji 3311-1, Shimotsuke, Tochigi, 329-0498, Japan. alphmadu@yahoo.com.|College of Medicine and Allied Health Sciences, University of Sierra Leone, Private Mail Bag, Freetown, Sierra Leone. alphmadu@yahoo.com.
authors.forename: Amadu
authors.initials: A
authors.lastname: Jalloh
authors.affiliation: Princess Christian Maternity and Children's Hospital, Freetown, Sierra Leone.
authors.forename: Muctarr
authors.initials: M
authors.lastname: Jalloh
authors.affiliation: Princess Christian Maternity and Children's Hospital, Freetown, Sierra Leone.
authors.forename: Idrissa
authors.initials: I
authors.lastname: Gamanga
authors.affiliation: Princess Christian Maternity and Children's Hospital, Freetown, Sierra Leone.
authors.forename: David
authors.initials: D
authors.lastname: Baion
authors.affiliation: College of Medicine and Allied Health Sciences, University of Sierra Leone, Private Mail Bag, Freetown, Sierra Leone.
authors.forename: Foday
authors.initials: F
authors.lastname: Sahr
authors.affiliation: College of Medicine and Allied Health Sciences, University of Sierra Leone, Private Mail Bag, Freetown, Sierra Leone.
authors.forename: Aiah
authors.initials: A
authors.lastname: Gbakima
authors.affiliation: College of Medicine and Allied Health Sciences, University of Sierra Leone, Private Mail Bag, Freetown, Sierra Leone.
authors.forename: Victor R
authors.initials: VR
authors.lastname: Willoughby
authors.affiliation: Division of Medical Zoology, Department of Infection and Immunity, Jichi Medical University, Yakushiji 3311-1, Shimotsuke, Tochigi, 329-0498, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Matsuoka
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution / Q000235:genetics; D002675:Child, Preschool; D005236:Favism / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D005954:Glucosephosphate Dehydrogenase / Q000096:biosynthesis / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology* / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012807:Sierra Leone / Q000453:epidemiology / Q000208:ethnology
chemical_list: D005954:Glucosephosphate Dehydrogenase; C482910:glucose-6-phosphate dehydrogenase A-