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 |