Table 4. G6PD enzymatic activity by G6PD-variants in hemizygous males, homozygous and heterozygous females (n = 127), Pailin, Cambodia, 2013.
Variants | Exon | Mutation | G6PD enzyme activity (UI/g Hb) | Hemizygous male | Homozygous female | Heterozygous female | Total |
ViangChan | 9 | 871G>A, 1311C>T, IVS11 nt93T>C | N | 55 | 15 | 49 | 117 (92.1%) |
Range | 0.3–3.2 | 0.5–3.2 | 3.9–7.1 | ||||
Mean (95% CI) | 1.0 (0.8–1.1) | 1.5 (1.0–2.0) | 5.6 (5.3–5.9) | ||||
Median (IQR) | 0.9 (0.6–1.2) | 1.2 (0.8–2.4) | 5.6 (4.6–6.4) | ||||
Mediterranean | 6 | 563C>T | N | 2 | 0 | 0 | 2 (1.6%) |
Range | - | - | - | ||||
Mean (95% CI) | 0.4 | - | - | ||||
Median (IQR) | 0.4 | - | - | ||||
Canton | 12 | 1376G>T | N | 1 | 0 | 3 | 4 (3.1%) |
Range | - | - | 5.5–7.1 | ||||
Mean (95% CI) | 0.8 | - | 6.3 (4.3–8.3) | ||||
Median (IQR) | 0.8 | - | 6.4 (5.7–6.9) | ||||
CoImbra | 6 | 592C>T | N | 1 | 0 | 1 | 2 (1.6%) |
Range | - | - | - | ||||
Mean (95% CI) | 0.5 | - | 4.3 | ||||
Median (IQR) | 0.5 | - | 4.3 | ||||
Mahidol | 6 | 487G>A | N | 0 | 0 | 1 | 1 (0.8%) |
Range | - | - | - | ||||
Mean (95% CI) | - | - | 4.7 | ||||
Median (IQR) | - | - | 4.7 | ||||
Chinese-5 | 9 | 1024C>T | N | 0 | 0 | 1 | 1 (0.8% |
Range | - | - | - | ||||
Mean (95% CI) | - | - | 4.5 | ||||
Median (IQR) | - | - | 4.5 |