Genetic Haemochromatosis - common in Celtic/Gaelic nations

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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.
 
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1 in 113 is certainly fewer than 1 in 20.
 

FAQ: Genetic Haemochromatosis - common in Celtic/Gaelic nations

What is genetic haemochromatosis?

Genetic haemochromatosis is an inherited condition that causes the body to absorb and store too much iron from the diet. This excess iron can accumulate in various organs, particularly the liver, heart, and pancreas, leading to potential damage and associated health issues.

Why is genetic haemochromatosis common in Celtic/Gaelic nations?

Genetic haemochromatosis is particularly common in people of Celtic or Gaelic descent due to a higher prevalence of certain genetic mutations, specifically the HFE gene mutations C282Y and H63D. These mutations are thought to have provided a survival advantage in ancient times when iron deficiency was more common, but in modern times, they lead to iron overload.

What are the symptoms of genetic haemochromatosis?

Symptoms of genetic haemochromatosis can vary but often include fatigue, joint pain, abdominal pain, liver abnormalities, diabetes, heart problems, and skin discoloration. Symptoms typically appear in middle age, but they can occur earlier or later depending on the severity of iron accumulation.

How is genetic haemochromatosis diagnosed?

Genetic haemochromatosis is diagnosed through a combination of blood tests that measure iron levels, genetic testing to identify HFE gene mutations, and liver biopsy or MRI to assess iron accumulation in the liver. Early diagnosis is crucial for managing the condition and preventing complications.

What treatments are available for genetic haemochromatosis?

Treatment for genetic haemochromatosis primarily involves regular phlebotomy (blood removal) to reduce iron levels. This is similar to donating blood and is usually done on a regular basis until iron levels return to normal. In some cases, chelation therapy, which uses medication to remove excess iron, may be necessary. Additionally, patients are advised to avoid iron supplements and limit dietary iron intake.

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