Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2827753 | Blood Cells, Molecules, and Diseases | 2009 | 5 Pages |
Abstract
On admission to hospital Caucasian 61Â year old male with jaundice was found to have unexplained increased serum iron indices. He had bilateral peripheral arthritis. On further investigation he had grade II hepatocellular iron staining and a hepatic index of 5.4 leading to a diagnosis of hereditary hemochromatosis. He lacked the common C282Y HFE mutation. We sequenced the complete HFE gene and found that he was heterozygous for a novel single nucleotide deletion (c.del478) in exon 3 of HFE. He lacks any other mutation in HFE or HJV, TFR2, HAMP and SLC40A1. The HFE mutation causes a frameshift (p.P160fs) that introduces a premature termination codon leading to mRNA degradation by nonsense-mediated decay. Haploinsufficiency of HFE may be one possible explanation for hemochromatosis in this patient.
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Authors
Jennifer J. Pointon, Chun Yu Lok, Jeremy D. Shearman, Richard J. Suckling, Jacques Rochette, Alison T. Merryweather-Clarke, Kathryn J.H. Robson,