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Table 4 Residual G6PD activity and genotypes documented in the hemizygous siblings of the G6PDd newborn index patients

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

Patient

Relationship (age)

G6PD genotype (variant legacy name)

WHO class

% Residual enzymatic activity

Outcome until the time of this study

Family 1

Index newborn

Hemizygous G6PD A−202A/376G

III

1.4

Asymptomatic

Half-brother (19 years old)

Hemizygous G6PD A−202A/376G

III

1.85

NNJ, healthy at the time of this study

Family 2

Index newborn

Hemizygous Mediterranean

II

0.1

NNJ, seizures

Brother (15 years old)

Hemizygous Mediterranean

II

0.2

Healthy at the time of this study

Family 3

Index newborn

Hemizygous G6PD A−202A/376G

III

4

Asymptomatic

Brother (3 years old)

Hemizygous G6PD A−202A/376G

III

2.8

NNJ requiring hospital management, AHA at 9 months and 2 years of age requiring blood transfusions

Family 4

Index newborn

Hemizygous G6PD A−376G/968C

III

1.35

Asymptomatic

Brother (4 years old)

Hemizygous G6PD A−376G/968C

III

1.3

Asymptomatic