Adrian Bomford

TL;DR: The isolation and characterization of a novel cDNA (Ireg1) encoding a duodenal protein that is localized to the basolateral membrane of polarized epithelial cells are described and it is concluded that IREG1 represents the long-sought duodental iron export protein and is upregulated in the iron overload disease, hereditary hemochromatosis.

TL;DR: A complementary DNA, Dcytb (for duodenal cytochrome b), was isolated, which encoded a putative plasma membrane di-heme protein in mouse duodensal mucosa, and provides an important element in the iron absorption pathway.

TL;DR: Ten patients with idiopathic haemochromatosis, all of whom had cirrhosis at the time of diagnosis, died of malignant hepatoma between three and 15 years after completing venesection therapy, strikingly higher than that rate predicted for a similarly aged population using national cancer mortality rates.

TL;DR: The phenotype of C282Y heterozygotes and homozygotes may be modified by heterozygosity for mutations which disrupt the function of hepcidin in iron homeostasis, with the severity of iron overload corresponding to the severityof the HAMP mutation.

TL;DR: In this article, the prevalence of the HLA-H associated C282Y and H63D mutations was determined by polymerase chain reaction amplification and restriction enzyme digestion in a cohort of 115 well characterised patients with GH and 101 controls from the United Kingdom.