Table 1

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)
13 (F)12 (F/M)0HepatomegalyPM: hepatic and extrahepatic siderosisNoneNDNRDied (3.5 d)
Abnormal coagulation
5 (F)12 (F/M)0HypoglycaemiaFerritin 500 μg/μlNoneNDGlucose and antimicrobialsDied (6 d)
Transferrin satn 96%
Gingival biopsy +veTransfused blood, plasma, platelets
PM: hepatic and extrahepatic siderosis
23 (NR)100NRNRNRNDNRDied
4 (M)100JaundiceTransferrin satn 85%NoneNDLiver transplant (16 d)Died (19 d)
HypoglycaemiaPM: hepatic and extrahepatic siderosis
34 (F)11 (F)0Acute liver failure at birthNRNoneAnti-RoLiver transplant (13 d)Survived (6.5 y)
Anti-La
+ve
5 (M)11 (F)0Day 1NRNoneAnti-RoAntioxidants straight after birthSurvived (4.5 y)
Anti-La
+ve
45 (F)01 half sib (F)0Abnormal thyroid hormoneFerritin 2000 μg/lNoneNDChelation (day 18)Died (42 d)
Neurology (day 16)Gingival biopsy +veLiver transplant (day 37)
PM: liver—necrosis, no normal parenchyma, iron deposits
54 (M)01 (F)0Day 3Liver biopsy: iron excessCoxsackieANA1:40Antioxidants (day 5)Survived (2.5 y)
MRI: diagnosticB virus
66 (M)11 (NR)1Oedematous, hepatosplenomegaly and hypoglycaemia at birthIron 31.5, ferritin 36 000NoneNDNRDied (3 d)
Liver biopsy: necrosis
Increased iron, few viable hepatocytes
4 (F)11 (NR)1NRNRNRNRNRDied (16 d)
74 (M)01 half sib (NR)0Day 4PM: liver increased iron E coli sepsis and candidiasis−veAntioxidants (day 23)Died
83 (M)NRNRNRNRMRI: oedemaNoneNDLiver transplant (day 45)NR
97 (M)04 half sibs (2M/2F twins)0Jaundice (day 10)Liver biopsy: hepatic necrosis, hepatic failure Staph aureus sepsisNDNRDied
PM: myocoarditis, liver abscesses
106 (F)03 (NR)0NRNRNRNRNRDied
116 (F)02 half sibs (F)0NRGingival biopsy −veHSV and candidiasisNDAntioxidantsSurvived (2 y)
Liver biopsy: siderosisTransplant
124 (F)02 (M/F)0Hypoglycaemia (day 1)High ferritinNRNDLiver transplant (day 35)Died (56 d)
Liver biopsy
134 (F)02 (M/F)0Jaundice (day 2)High ferritinNoneNDSupport therapy onlyDied (28 d)
PM: hepatic and extrahepatic siderosis
145 (M)02 (M/F) and 2 twins (M/F)* 0Lethargy (day 5)High ferritinNoneNDAntioxidants and liver transplant (day 39)Died (56 d)
PM: hepatic and extrahepatic siderosis
155 (F)11 (M)0Jaundice (day 3)High serum ferritinNoneNDSpontaneous recoverySurvived
Liver biopsy
MRI: iron in pancreas
4 (M)11 (M)0NRNRNRNRNRDied
165 (M)11 (F)1HypoglycaemiaHigh serum ferritinNoneNDAntioxidantsDied (35 d)
PM: hepatic and extrahepatic siderosis
6 (F)11 (F)1HypoglycaemiaHigh serum ferritinNoneNDAntioxidantsSurvived
Liver biopsyTransplant (day 19)
174 (F)01 (F)0HypoglycaemiaLiver biopsyNoneNDLiver transplant (day 16)Survived
184 (F)01 (F)0Jaundice (day 2)High serum ferritinNoneNDLiver transplant (day 42)Survived
Liver biopsy
194 (F)100HypoglycaemiaHigh serum ferritinNoneAnti-Ro, La, Sm, Jo, RNP −veSupportive therapy onlyDied (42 d)
PM: hepatic and extrahepatic siderosis
5 (F)100HypoglycaemiaHigh serum ferritinNoneAnti-Ro, La, Sm, Jo, RNP −veAntioxidantsDied (92 d)
PM: hepatic and extrahepatic siderosis
204 (M)101HypoglycaemiaHigh serum ferritinNoneNDLiver transplant (day 18)Died (28 d)
PM: hepatic and extrahepatic siderosis
5 (F)101NRNRNRNRNRDied
216 (M)21 (F)2HypoglycaemiaHigh serum ferritinNoneNDSupportiveDied (21 d)
7 (M)21 (F)2HypoglycaemiaHigh serum ferritinNoneNDAntioxidantsDied (28 d)
PM: hepatic and extrahepatic siderosis
MRI: iron in pancreas
8 (F)21 (F)2HypoglycaemiaHigh serum ferritinNoneNDAntioxidantsSurvived
Liver biopsyTransplant (day 5)
224 (M)100Jaundice (day 1)High serum ferritinNoneNDAntioxidantsDied (31 d)
PM: hepatic and extrahepatic siderosisTransplant (day 18)
233 (F)100NRNRNDNDNRDied (75 d)
4 (M)100Hepatic failureNRNDNDNRDied (42 d)
244 (F)11 (M)1Hepatic failurePM: hepatic and extrahepatic siderosisNDNDNRDied (2 d)
3 (M)11 (M)1NRNRNRNRNRDied (6 d)
254 (M)01 (M)0Hepatic fibrosis/liver failure10x raised serum ferritinNDNDNRNR
PM: hepatic and extrahepatic siderosis
263 (F)001Liver failureLiver biopsy: post-necrotic cirrhosis, abundant stainable ironNDNDNRDied (90 d)
MRI: iron in pancreas
273 (F)000NRLiver biopsy: fibrosis and increased ironNDNDNRDied (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.