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Table 1 Frequency of G6PD variants identified in the 81 Mexican G6PDd patients, according to WHO class and its mean enzymatic activity value

From: Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening

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