Table 2.
Prevalence of G6PD deficiency in Venezuelan individuals from Sifontes and Cajigal municipalities and G6PD gene alleles from subjects with biochemical deficiency
Geographical setting | Gender | TOTAL | G6PD determination results | ||||
---|---|---|---|---|---|---|---|
Biochemical test* | DNA analysis(**) | ||||||
Normal(a) | G6PDd(#, b) | Wild-type allele | 202G → A allele | 376A → G allele | |||
Cajigal municipality (Sucre state) n = 332 | F | 163 | 156 (95.7) | 7 (4.3) | 3 | 4 | 4 |
M | 169 | 156 (92.3) | 13 (7.7) | 1 | 11 | 12 | |
Sifontes municipality (Bolívar state) n = 332 | F | 164 | 163 (99.4) | 1 (0.6) | 1 | 0 | 0 |
M | 168 | 165 (98.2) | 3 (1.8) | 0 | 2 | 3 | |
664 | 640 (96.4) | 24 (3.6) | 5 (20.8) | 17 (70.8) | 19 (79.2) |
Data are in number (percentage) of cases for each condition
F females, M males, G6PDd G6PD-deficient subjects
# p = 0.001 by Fisher’s exact test for the comparison of G6PD deficiency prevalence among subjects of Cajigal vs. Sifontes municipality
* The biochemical test used was a NeoLiSA G6PD assay (Interscientific®, Hollywood, USA). p < 0.0001 by Student’s test for comparison of mean G6PD enzyme activity among normal and G6PDd subjects
** DNA analysis by PCR/RFLP and sequencing of the exons 4–8 of G6PD gene from subjects with biochemical deficiency. The other alleles, which were studied by sequencing (185C → A, 542A → T, 592C → T, 593G → C, 634A → G, 637G → T, 680G → A, 820G → A, 835A → T, 854G → A and 871G → A) resulted wild-type
aMean G6PD enzyme activity of 12.9 ± 3.8 U/g Hb [defined as Class IV (in 84 %) and V (in 2 %) (data not shown)], according to WHO criteria (33, 34)
bMean G6PD enzyme activity of 4.5 ± 1.2 U/g Hb (defined as moderately deficient enzyme, Class III, according to WHO criteria [33, 34]. p = 0.007 among G6PDd males and females compared by Student’s test