Table 1.
Frequency of G6PD variants identified in the 81 Mexican G6PDd patients, according to WHO class and its mean enzymatic activity value
|
G6PD variant
Legacy name |
WHO class | G6PD genotype (according to NM_001042351.2) | Protein Change (according to NP_001035810.1) | Geographical origin | Present study | ||
|---|---|---|---|---|---|---|---|
| Frequency (%) | G6PD activity U/g Hb (min–max) | G6PD residual activity % | |||||
| Males (80) | |||||||
| G6PD A−202A/376G | III | c.[202G>A; 376A>G] | p.[Val68Met; Asn126Asp] | African | 49 (60.5) | 2.76 (1.1–4.8) | 31.04 |
| G6PD A−376G/968C | III | c.[376A>G; 968T>C] | p.[Asn126Asp; Leu323Pro] | African | 18 (22.2) | 1.55 (0.5–2.6) | 17.37 (5.62–29.21) |
| Union-Maewo | II | c.[1360C>T] | p.[Arg454Cys] | Asian (Philippines) | 6 (7.4) | 0.07 (0.05–0.1) | 0.73 (0.56–1.12) |
| Akrokorinthos | II–III | c.[463C>G] | p.[His155Asp] | Greece | 2 (2.5) | 3.33 (2.6–4) | 37.36 (29.78–44.94) |
| Belem | II | c.[409C>T] | p.[Leu137Phe] | Brazil | 1 (1.2) | 1.1 | 12.36 |
| Mediterranean | II | c.[563C>T] | p.[Ser188Phe] | Mediterranean | 1 (1.2) | 0.1 | 1.12 |
| Santamaria376G/542T | II | c.[376A>G; 542A>T] | p.[Asn126Asp; Asp181Val] | Costa Rica, Italy | 1 (1.2) | 0.9 | 10.11 |
| Mahidol | III | c.[487G>A] | p.[Gly163Ser] | Asian | 1 (1.2) | 2.7 | 30.34 |
| Viangchan-Jammu | III | c.[871G>A] | p.[Val291Met] | Asian (China) | 1 (1.2) | 3.9 | 43.82 |
| Female (1) | |||||||
| Heterozygous G6PD A−376G/968C | III | c.[376A>G; 968T>C];[=] | p.[Asn126Asp; Leu323Pro];[=] | African | 1 (1.2) | 0.35 | 3.93 |