Clinical features of patients with neonatal haemochromatosis
| Patient | ||||||||
|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | |
| The normal range for ferritin is 110–503 μg/l. | ||||||||
| MOF, Multiorgan failure; CNS, central nervous system. | ||||||||
| Gestational age (weeks) | 40 | 40 | 40 | 40 | 35 | 36 | 40 | 2.7 |
| Birth weight (kg) | 2.72 | 3.2 | 3.5 | 3.52 | 2.78 | 2.9 | 3.2 | 3.5 |
| Age at presentation (days) | 31 | 30 | 1 | 4 | 1 | 16 | 1 | 3 |
| Associated features | Consanguinity | – | Maternal anti-Ro anti-La, affected sibling | E coli septicaemia | Consanguinity − 2 previous perinatal deaths | – | Maternal anti-Ro anti-La, affected sibling | Coxsackie B meningitis |
| Ferritin (μg/l) | 40000 | 4180 | 15000 | 7690 | 10000 | 2000 | 2093 | 1600 |
| Age started antioxidants (days) | – | – | – | 23 | 1 | 18 | 1 | 4 |
| Age at liver transplant (days) | – | 45 | 13 | – | 37 | – | – | |
| Outcome | Died from MOF | Died CNS complications | Alive and well | Died from MOF | Died day 2 from MOF | Died from graft failure | Responded to antioxidants, alive and well | Responded to antioxidants, alive and well |
| Post mortem | Siderosis in liver. Iron stores not examined in other organs | Refused | – | Grade 4 siderosis in liver. Iron stores not examined in other organs | Refused | Grade 4 siderosis in liver. Iron stores not examined in other organs | – | – |