Overview
- University of Edinburgh researchers mapped the HFE C282Y variant across 29 regions using more than 400,000 genomes, reporting the results in Nature Communications.
- Risk is highest in north‑west Ireland (about 1 in 54) and the Outer Hebrides (about 1 in 62), higher than mainland Scotland, with far lower rates in southwest England (about 1 in 212–218).
- NHS England data identify over 70,000 diagnoses, with rates nearly four times higher in white Irish patients and 11 times higher in Liverpool than Kent.
- The team flags likely under‑diagnosis in parts of England such as Birmingham, Cumbria, Northumberland and Durham, while comparable diagnostic data are unavailable for Scotland, Wales and Northern Ireland.
- Study authors, patient groups and a Western Isles MP are urging targeted community genetic screening in high‑risk areas, noting that early detection enables simple treatment by regular blood removal.