“Celtic curse” hotspots found in Scotland and Ireland with 1 in 54 at risk

 People with roots in the Outer Hebrides and northwest Ireland face the highest known risk of developing hemochromatosis, a genetic disorder that causes the body to absorb and store too much iron. Over time, that excess iron can build up to dangerous levels.

This is the first time researchers have mapped genetic risk for hemochromatosis, sometimes called the 'Celtic curse', across the UK and Ireland. The condition has long been known to affect Scottish and Irish populations at higher rates, but until now its geographic distribution had not been clearly char Experts say the findings could help health officials focus genetic screening in the areas most affected, allowing people at risk to be identified earlier and treated before serious complications develop.

Iron Overload Can Damage Organs Over Decades

Hemochromatosis often develops slowly. Excess iron can accumulate in organs for years or even decades before symptoms appear. If left untreated, it can lead to liver damage, liver cancer, arthritis, and other serious health problems. Early diagnosis makes a major difference. Regular blood donation to lower iron levels is a simple and effective treatment that can prevent much of the harm.

The disease is caused by inherited changes in DNA known as genetic variants. In the UK and Ireland, the main risk factor is a variant called C282Y.

Researchers at the University of Edinburgh analyzed genetic information from more than 400,000 people who took part in the UK BioBank and Viking Genes studies. They examined how common the C282Y variant was in 29 regions across the British Isles and Ireland.

Where the C282Y Gene Variant Is Most Common

The highest rates were found among people with ancestry from northwest Ireland, where about one in 54 people are estimated to carry the variant. The Outer Hebrides followed closely at one in 62, and Northern Ireland at one in 71.

Mainland Scotland also showed elevated risk, particularly in Glasgow and southwest Scotland. In those areas, about one in 117 people carry the variant, reinforcing the long standing 'Celtic Curse' nickname.

Because the combined genetic risk is so high in these regions, researchers say targeted screening there would likely identify the greatest number of people with the condition.

Diagnosis Patterns and Possible Under Detection

The team also reviewed NHS England records and found more than 70,000 diagnosed cases of hemochromatosis. White Irish individuals were nearly four times more likely to be diagnosed than white British individuals.ted.

Source: ScienceDaily