Genetic Haemochromatosis - common in Celtic/Gaelic nations

  • Thread starter Astronuc
  • Start date
  • #1
Astronuc
Staff Emeritus
Science Advisor
2023 Award
21,911
6,338
Genetic haemochromatosis is most common undiagnosed genetic condition in Scotland. Recent research suggests that around 1 in 113 people in Scotland are pre-disposed to the condition, but fewer than 1 in 20 have been diagnosed.
Apparently it is common in Ireland and Wales as well, and perhaps N. England.

Aberdeenshire has had, or has, "a community preventative health initiative over the next 3 months, to raise awareness of genetic haemochromatosis (iron overload) across rural Aberdeenshire in memory of local resident Miranda McHardy, who passed away suddenly aged 59 from GH in Spring 2023.

This project is being undertaken in collaboration our charity’s Scottish volunteers, our Friends Against Iron Overload and other supporters, including Miranda's family and friends, who were determined to transform their loss into something positive for the local community."
https://www.haemochromatosis.org.uk/news/screening-across-aberdeenshire
The page is not dated, so it's not clear that this already happened or is ongoing.

https://www.haemochromatosis.org.uk/common-symptoms-of-genetic-haemochromatosis

This is also a possible health concern for Irish, Scottish and Welsh immigrants in US, Canada, Australia and NZ, where it might be more likely to be missed.
 
  • Informative
Likes pinball1970
Biology news on Phys.org
  • #2
1 in 113 is certainly fewer than 1 in 20.
 

What is Genetic Haemochromatosis?

Genetic Haemochromatosis (GH) is an inherited condition where the body absorbs too much iron from the diet. This excess iron is then deposited in various organs, especially the liver, heart, and pancreas, which can cause serious conditions like liver cirrhosis, heart disease, and diabetes. GH is caused by mutations in genes involved in iron metabolism, primarily the HFE gene.

Why is Genetic Haemochromatosis more common in Celtic/Gaelic nations?

The higher prevalence of GH in Celtic/Gaelic nations, such as Ireland and Scotland, is thought to be due to a genetic bottleneck effect or founder effect. This means that a small ancestral population with a higher frequency of the HFE gene mutation passed this trait on to a large proportion of descendants. This genetic trait has been preserved and amplified in these populations over generations.

What are the symptoms of Genetic Haemochromatosis?

Symptoms of GH can vary widely and may develop over time. Common symptoms include joint pain, fatigue, weakness, diabetes, liver disease (manifested as cirrhosis), heart abnormalities, and skin darkening. Symptoms typically appear in midlife, but early detection and treatment can help manage symptoms and prevent complications.

How is Genetic Haemochromatosis diagnosed?

GH is diagnosed through a combination of blood tests, genetic testing, and liver biopsy. Blood tests check for elevated levels of iron and ferritin, which indicate iron overload. Genetic testing can identify mutations in the HFE gene, confirming the diagnosis. In some cases, a liver biopsy may be performed to assess the extent of liver damage.

What treatments are available for Genetic Haemochromatosis?

The primary treatment for GH is regular phlebotomy, or blood removal, which helps reduce iron levels in the body. The frequency of phlebotomy depends on the severity of iron overload. Chelation therapy, which involves using medication to remove excess iron, is another option, particularly for those who cannot undergo phlebotomy. Lifestyle changes, such as avoiding iron supplements, vitamin C supplements, and alcohol, can also help manage the condition.

Hot Threads

Recent Insights

Back
Top