Table 1.
Genotype | Phenotype | ||||
---|---|---|---|---|---|
Male | Female | Category | % Normal activitya | ||
Type | Allele | Type | Allele | ||
Hemizygous | Def. | Homozygous | Def.1 Def.1 | Severe deficient | <30% |
Heterozygous | Def.1 Def.2 | ||||
Heterozygous | Def. Norm. | Intermediate or mildly deficient | Mostly between 30% and 80%b | ||
Hemizygous | Norm. | Heterozygous | Norm.1 Norm.2 | Normal | >80% |
Homozygous | Norm.1 Norm.1 |
aNormal activity or 100% can be defined as the median activity of male hemizygous normal.
bHeterozygous females can range from severely deficient G6PD levels to normal, but lie mostly within the 30–80% activity range.