Spur cell anaemia acid hepatic iron stores in patients with alcoholic liver disease undergoing orthotopic liver transplantation

Background-Following orthotopic liver transplantation (OLT) histological ex amination of explant livers from patients with alcoholic liver disease (ALD ) sometimes shows extensive iron deposits in a distribution suggestive of h omozygous haemochromatosis. Aims-To use haemochromatosis gene (HFE) assays to distinguish between ALD w ith notable siderosis and hereditary haemochromatosis. To evaluate the poss ible influence of spur cell haemolytic anaemia on hepatic iron loading. Patients-Thirty seven patients with ALD were abstinent for at least six mon ths prior to OLT. Twenty three patients had transferrin saturations greater than 55%, 16 also had increased serum ferritin (>350 mu g/l). Eight of 37 (22%) explant livers had grade 3 or 4 hepatic iron deposition, predominantl y in hepatocytes. Of these, four had a hepatic iron index greater than 1.9 and most seemed to have spur cell haemolytic anaemia. Methods-Mutation analysis for C282Y and H63D mutations was performed on DNA extracts from peripheral blood or explant liver. Spur cell haemolytic anae mia was diagnosed when the haemoglobin was 105 g/l in the presence of notab le acanthocytosis. Results-None of the eight patients with grade 3 or 4 hep atic iron had evidence of the C282Y mutation. Two of the eight were heteroz ygous for H63D. None of the remaining 28 patients tested showed homozygous HFE mutations. Spur cell anaemia was present in six of the eight patients w ith heavy iron deposition and only one of the remaining patients. Conclusions-The HFE mutation was not present in these patients with advance d ALD and heavy iron loading. Spur cell haemolytic anaemia provides an alte rnative potential mechanism for the heavy iron loading.