Clinical details of patients with neonatal haemochromatosis
| Family | Patients (sex) | Aff sibs | Unaff sibs (sex) | Misc | Presentation | Diagnosis | Infection | Maternal Ab | Treatment (age) | Outcome (age) | ||||||||||
| 1 | 3 (F) | 1 | 2 (F/M) | 0 | Hepatomegaly | PM: hepatic and extrahepatic siderosis | None | ND | NR | Died (3.5 d) | ||||||||||
| Abnormal coagulation | ||||||||||||||||||||
| 5 (F) | 1 | 2 (F/M) | 0 | Hypoglycaemia | Ferritin 500 μg/μl | None | ND | Glucose and antimicrobials | Died (6 d) | |||||||||||
| Transferrin satn 96% | ||||||||||||||||||||
| Gingival biopsy +ve | Transfused blood, plasma, platelets | |||||||||||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 2 | 3 (NR) | 1 | 0 | 0 | NR | NR | NR | ND | NR | Died | ||||||||||
| 4 (M) | 1 | 0 | 0 | Jaundice | Transferrin satn 85% | None | ND | Liver transplant (16 d) | Died (19 d) | |||||||||||
| Hypoglycaemia | PM: hepatic and extrahepatic siderosis | |||||||||||||||||||
| 3 | 4 (F) | 1 | 1 (F) | 0 | Acute liver failure at birth | NR | None | Anti-Ro | Liver transplant (13 d) | Survived (6.5 y) | ||||||||||
| Anti-La | ||||||||||||||||||||
| +ve | ||||||||||||||||||||
| 5 (M) | 1 | 1 (F) | 0 | Day 1 | NR | None | Anti-Ro | Antioxidants straight after birth | Survived (4.5 y) | |||||||||||
| Anti-La | ||||||||||||||||||||
| +ve | ||||||||||||||||||||
| 4 | 5 (F) | 0 | 1 half sib (F) | 0 | Abnormal thyroid hormone | Ferritin 2000 μg/l | None | ND | Chelation (day 18) | Died (42 d) | ||||||||||
| Neurology (day 16) | Gingival biopsy +ve | Liver transplant (day 37) | ||||||||||||||||||
| PM: liver—necrosis, no normal parenchyma, iron deposits | ||||||||||||||||||||
| 5 | 4 (M) | 0 | 1 (F) | 0 | Day 3 | Liver biopsy: iron excess | Coxsackie | ANA1:40 | Antioxidants (day 5) | Survived (2.5 y) | ||||||||||
| MRI: diagnostic | B virus | |||||||||||||||||||
| 6 | 6 (M) | 1 | 1 (NR) | 1 | Oedematous, hepatosplenomegaly and hypoglycaemia at birth | Iron 31.5, ferritin 36 000 | None | ND | NR | Died (3 d) | ||||||||||
| Liver biopsy: necrosis | ||||||||||||||||||||
| Increased iron, few viable hepatocytes | ||||||||||||||||||||
| 4 (F) | 1 | 1 (NR) | 1 | NR | NR | NR | NR | NR | Died (16 d) | |||||||||||
| 7 | 4 (M) | 0 | 1 half sib (NR) | 0 | Day 4 | PM: liver increased iron | E coli sepsis and candidiasis | −ve | Antioxidants (day 23) | Died | ||||||||||
| 8 | 3 (M) | NR | NR | NR | NR | MRI: oedema | None | ND | Liver transplant (day 45) | NR | ||||||||||
| 9 | 7 (M) | 0 | 4 half sibs (2M/2F twins) | 0 | Jaundice (day 10) | Liver biopsy: hepatic necrosis, hepatic failure | Staph aureus sepsis | ND | NR | Died | ||||||||||
| PM: myocoarditis, liver abscesses | ||||||||||||||||||||
| 10 | 6 (F) | 0 | 3 (NR) | 0 | NR | NR | NR | NR | NR | Died | ||||||||||
| 11 | 6 (F) | 0 | 2 half sibs (F) | 0 | NR | Gingival biopsy −ve | HSV and candidiasis | ND | Antioxidants | Survived (2 y) | ||||||||||
| Liver biopsy: siderosis | Transplant | |||||||||||||||||||
| 12 | 4 (F) | 0 | 2 (M/F) | 0 | Hypoglycaemia (day 1) | High ferritin | NR | ND | Liver transplant (day 35) | Died (56 d) | ||||||||||
| Liver biopsy | ||||||||||||||||||||
| 13 | 4 (F) | 0 | 2 (M/F) | 0 | Jaundice (day 2) | High ferritin | None | ND | Support therapy only | Died (28 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 14 | 5 (M) | 0 | 2 (M/F) and 2 twins (M/F)* | 0 | Lethargy (day 5) | High ferritin | None | ND | Antioxidants and liver transplant (day 39) | Died (56 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 15 | 5 (F) | 1 | 1 (M) | 0 | Jaundice (day 3) | High serum ferritin | None | ND | Spontaneous recovery | Survived | ||||||||||
| Liver biopsy | ||||||||||||||||||||
| MRI: iron in pancreas | ||||||||||||||||||||
| 4 (M) | 1 | 1 (M) | 0 | NR | NR | NR | NR | NR | Died | |||||||||||
| 16 | 5 (M) | 1 | 1 (F) | 1 | Hypoglycaemia | High serum ferritin | None | ND | Antioxidants | Died (35 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 6 (F) | 1 | 1 (F) | 1 | Hypoglycaemia | High serum ferritin | None | ND | Antioxidants | Survived | |||||||||||
| Liver biopsy | Transplant (day 19) | |||||||||||||||||||
| 17 | 4 (F) | 0 | 1 (F) | 0 | Hypoglycaemia | Liver biopsy | None | ND | Liver transplant (day 16) | Survived | ||||||||||
| 18 | 4 (F) | 0 | 1 (F) | 0 | Jaundice (day 2) | High serum ferritin | None | ND | Liver transplant (day 42) | Survived | ||||||||||
| Liver biopsy | ||||||||||||||||||||
| 19 | 4 (F) | 1 | 0 | 0 | Hypoglycaemia | High serum ferritin | None | Anti-Ro, La, Sm, Jo, RNP −ve | Supportive therapy only | Died (42 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 5 (F) | 1 | 0 | 0 | Hypoglycaemia | High serum ferritin | None | Anti-Ro, La, Sm, Jo, RNP −ve | Antioxidants | Died (92 d) | |||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 20 | 4 (M) | 1 | 0 | 1 | Hypoglycaemia | High serum ferritin | None | ND | Liver transplant (day 18) | Died (28 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 5 (F) | 1 | 0 | 1 | NR | NR | NR | NR | NR | Died | |||||||||||
| 21 | 6 (M) | 2 | 1 (F) | 2 | Hypoglycaemia | High serum ferritin | None | ND | Supportive | Died (21 d) | ||||||||||
| 7 (M) | 2 | 1 (F) | 2 | Hypoglycaemia | High serum ferritin | None | ND | Antioxidants | Died (28 d) | |||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| MRI: iron in pancreas | ||||||||||||||||||||
| 8 (F) | 2 | 1 (F) | 2 | Hypoglycaemia | High serum ferritin | None | ND | Antioxidants | Survived | |||||||||||
| Liver biopsy | Transplant (day 5) | |||||||||||||||||||
| 22 | 4 (M) | 1 | 0 | 0 | Jaundice (day 1) | High serum ferritin | None | ND | Antioxidants | Died (31 d) | ||||||||||
| PM: hepatic and extrahepatic siderosis | Transplant (day 18) | |||||||||||||||||||
| 23 | 3 (F) | 1 | 0 | 0 | NR | NR | ND | ND | NR | Died (75 d) | ||||||||||
| 4 (M) | 1 | 0 | 0 | Hepatic failure | NR | ND | ND | NR | Died (42 d) | |||||||||||
| 24 | 4 (F) | 1 | 1 (M) | 1 | Hepatic failure | PM: hepatic and extrahepatic siderosis | ND | ND | NR | Died (2 d) | ||||||||||
| 3 (M) | 1 | 1 (M) | 1 | NR | NR | NR | NR | NR | Died (6 d) | |||||||||||
| 25 | 4 (M) | 0 | 1 (M) | 0 | Hepatic fibrosis/liver failure | 10x raised serum ferritin | ND | ND | NR | NR | ||||||||||
| PM: hepatic and extrahepatic siderosis | ||||||||||||||||||||
| 26 | 3 (F) | 0 | 0 | 1 | Liver failure | Liver biopsy: post-necrotic cirrhosis, abundant stainable iron | ND | ND | NR | Died (90 d) | ||||||||||
| MRI: iron in pancreas | ||||||||||||||||||||
| 27 | 3 (F) | 0 | 0 | 0 | NR | Liver biopsy: fibrosis and increased iron | ND | ND | NR | Died (49 d) | ||||||||||
Aff sibs, affected sibs. Unaff sibs, unaffected sibs. Misc, miscarriage. PM, postmortem examination. NR, not recorded. ND, not done. F, female. M, male.