Table 3 Clinical description and type of G6PD variants found in the patients belonging to Group I (hospitalization during neonatal period)
ID | G6PD variant Legacy name | WHO class | Luzzato 2016 classification | G6PD activity U/g Hb | G6PD activity % | NNJ | Hospitalization | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Clinical data (HPO ID)a | Age (days) | Cause | Cause related to G6PDd | Length (days) | |||||||
30 | Mediterranean | II | I | 0.10 | 1.12 | Yes | Seizures (HP: 0001250) | 7 | Treatment of seizures | No | 7 |
71 | G6PD A−376G/968C (heterozygous female) | III | I | 0.35 | 3.93 | No | Neonatal asphyxia (HP: 0012768) Neonatal hypoglycemia (HP: 0001998) | < 1 | Clinical surveillance | Unclear | 3 |
14 | G6PD A−376G/968C | III | II + III | 1.20 | 13.48 | Yes | NNJ (HP: 0000952) | < 1 | Phototherapy | Yes | 15 |
11b | G6PD A−376G/968C | III | II + III | 1.50 | 16.85 | Yes | NNJ (HP: 0000952) | 7 | Phototherapy | Yes | 3 |
AHA (HP: 0001878) | 37 | Anemia diagnostic approach requiring blood transfusion | Yes | 4 | |||||||
2 | G6PD A−202A/376G | III | II + III | 1.55 | 17.42 | No | Cough (HP: 0012735) Rhinitis (HP: 0012384) Fever (HP: 0001945) Neutropenia (HP: 0001875) Lethagy (HP: 0001254) AHA (HP: 0001878) Melanocitic nevus (HP: 0000995) | 60 | Upper respiratory tract infection, anemia diagnostic approach and transfusion | Yes | 1 |
39 | G6PD A−376G/968C | III | II + III | 2.00 | 22.47 | Yes | NNJ (HP: 0000952) | 4 | Phototherapy | Yes | 1 |
15 | G6PD A−202A/376G | III | Does not meet criteriac | 3.00 | 33.71 | No | Fever (HP: 0001945) | 42 | Diagnostic approach of sepsis | Unclear | 3 |
57 | G6PD A−202A/376G | III | II–III | 3.00 | 33.71 | Yes | NNJ (HP: 0000952) Tachypnea (HP: 0002789) Neonatal sepsis (HP: 0040187) | < 1 | Sepsis diagnostic approach and NNJ treatment | Yes | 15 |
19 | G6PD A−202A/376G | III | Does not meet criteria | 4.60 | 51.69 | Yes | Transient apnea (HP: 0002104) Neonatal sepsis (HP: 00401879) | < 1 | Diagnostic approach and sepsis treatment | Unclear | 7 |