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. Author manuscript; available in PMC: 2023 Apr 1.
Published in final edited form as: Pharmacogenet Genomics. 2022 Apr 1;32(3):87–93. doi: 10.1097/FPC.0000000000000456

TABLE 1.

Observed G6PD genotypes

Normal Phenotype Deficient Phenotype Variable Phenotype
Race Genotype, n (%) Genotype, n (%) Genotype, n (%)
Female White, non-Hispanic (n=355) B/B, 354 (99.7) 0 (0) A-(202A_376G)/B, A/Asahi, 1 (0.3)
White, Hispanic (n=61) B/B, 59 (96.8)
A/B, 1 (1.6)
0 (0) A-(202A_376G)/B, A/Asahi, 1 (1.6)
Black (n=137) B/B, 58 (42.3)
A/B, 40 (29.2)
A/A, 7 (5.1)
A-(202A_376G)/A-(202A_376G), 4 (3.0)
A-(202A_376G)/A-(968C_376G), 1 (0.7)
A-(968C_376G)/A-(968C_376G), 1 (0.7)
A-(202A_376G)/B, A/Asahi, 20 (14.6)
A-(202A_376G)/A, 6 (4.4)
Multiracial (n=59) B/B, 50 (84.7)
A/B, 6 (10.2)
B/Mira d’Aire, 1 (1.7)
0 (0) A-(202A_376G)/B, A/Asahi, 2 (3.4)
Asian (n=11) B/B, 11 (100) 0 (0) 0 (0)
Total females (n=623) 587 (94.2) 6 (1) 30 (4.8)
Male White, non-Hispanic (n=447) B, 447 (100) 0 (0) NA
White, Hispanic (n=52) B, 52 (100) 0 (0) NA
Black (n=159) B, 105 (66)
A, 36 (22.7)
A-(202A_376G), 18 (11.3) NA
Multiracial (n=89) B, 80 (89.9)
A, 7 (7.9)
A-(202A_376G), 2 (2.2) NA
Asian (n=21) B, 20 (95.2) Kalyan-Kerala, 1 (4.8) NA
Total males (n=768) 747 (97.3) 21 (2.7) NA
Total patients Total (n=1391) 1334 (95.9) 27 (2) 30 (2.1)

B designates no variant was observed and is considered the wild-type allele; A designates the c.376G SNP was observed alone; A-(202A_376G) designates the c.202A and c.376G SNPS were observed on the same allele; A-(202A_376G)/B, A/Asahi designates the c.202A and c.376G SNPS were observed but it could not be determined if the SNPS were on the same or separate alleles; A-(968C_376G) designates the c.968C and c.376G SNPS were observed on the same allele, Mira d’Aire designates the c.1048C SNP was observed; Kalyan-Kerala designates the c.949A SNP was observed. Race was determined based on PharmacoScan™ assay result.