K. J. H. Robson

TL;DR: The distribution of the C282Y mutation coincides with that of populations in which haemochromatosis has been reported and is consistent with the theory of a north European origin for the 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.

TL;DR: These are the first phenotypic observations for patients without either C282Y or H63D mutation of HFE, which promises to be a highly effective tool in the diagnosis of GH.

TL;DR: The evidence about HFE C282Y frequencies, extended haplotypes involving HLA-A and -B alleles, the validity of calculations of mutation age, selective advantage and current views on the relative importance of “demic-diffusion” and “adoption-diffusions” in the neolithic transition in Europe and since then are examined.

TL;DR: It is suggested that the combination of TF C2 and HFE C282Y may lead to an excess of redox-active iron and the induction of oxidative stress in neurones, which is exacerbated in carriers of APOE4.