How common is hemochromatosis worldwide?

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The prevalence of hemochromatosis varies widely depending on the population and genetic factors. Hereditary hemochromatosis is most common in individuals of Northern European descent, particularly those with ancestry from regions such as Ireland, Scotland, and Scandinavia. The most common genetic mutation responsible for hemochromatosis is the HFE C282Y mutation, and its distribution across populations gives insight into how common the condition is worldwide.

Global Prevalence of Hemochromatosis:

Northern Europe:
- Prevalence of C282Y Homozygotes: The highest rates of hereditary hemochromatosis are seen in people of Northern European descent, where the condition is sometimes referred to as the “Celtic curse” due to its frequency in populations of Irish and Celtic origin.
  - Approximately 1 in 200 to 1 in 300 people of Northern European descent is homozygous for the C282Y mutation, meaning they carry two copies of the mutated gene and are at high risk for developing iron overload.
  - Around 1 in 8 to 1 in 10 people of Northern European descent is heterozygous for the C282Y mutation, meaning they carry one copy of the gene and are considered carriers with a lower risk of iron overload.
Other European Populations:
- The prevalence of hereditary hemochromatosis decreases as you move south and east in Europe. In Southern European populations (such as those in Spain, Italy, and Greece), the frequency of the C282Y mutation is lower, but other mutations, such as H63D, may be more common.
- Prevalence in Southern Europe: Approximately 1 in 500 to 1 in 1,000 people is homozygous for the C282Y mutation in these regions, with fewer heterozygous carriers compared to Northern Europe.
North America:
- In the United States and Canada, where populations of Northern European descent are significant, hereditary hemochromatosis is relatively common.
  - It is estimated that about 1 in 200 to 1 in 300 people in the general North American population is homozygous for the C282Y mutation, similar to the rates seen in Northern Europe.
  - In populations with mixed ancestry, including people of Hispanic, African, and Asian descent, the prevalence of the condition is significantly lower.
Australia and New Zealand:
- Given the large populations of European (especially British and Irish) descent, hereditary hemochromatosis is also relatively common in Australia and New Zealand. The prevalence rates mirror those seen in Northern Europe and North America, with about 1 in 200 to 1 in 300 people being homozygous for the C282Y mutation.
Africa, Asia, and the Middle East:
- Hereditary hemochromatosis is rare in non-European populations. The C282Y mutation is virtually absent in people of African, Asian, and Middle Eastern descent. However, iron overload can still occur due to other causes (such as secondary hemochromatosis from conditions like thalassemia or chronic liver disease) but is not typically caused by the HFE gene mutations.
- In these regions, the prevalence of C282Y homozygotes is extremely low, often less than 1 in 1,000 or even rarer. Other mutations in the HFE gene, such as H63D, may be found in small numbers, but they are not associated with the same degree of risk for iron overload as C282Y.

Overall Global Estimate:

Worldwide, hereditary hemochromatosis, particularly caused by the C282Y mutation, is most common among people of European ancestry. In populations with predominantly Northern European backgrounds, about 0.3% to 0.5% of individuals are homozygous for the C282Y mutation, meaning they are at risk of developing iron overload.
Among the general global population, including regions where the C282Y mutation is rare or absent, hereditary hemochromatosis is less common, with a significantly lower prevalence.

Key Points:

Most common in Northern Europeans: About 1 in 200 to 1 in 300 people in Northern European populations are homozygous for the C282Y mutation.
Less common in Southern Europe: Around 1 in 500 to 1 in 1,000 people are homozygous for the mutation in Southern Europe.
Rare in non-European populations: Hemochromatosis is very rare in people of African, Asian, and Middle Eastern descent.
Global Prevalence: Roughly 0.3% to 0.5% of people in populations with European ancestry have homozygous mutations, while the prevalence is significantly lower in other regions.

While hereditary hemochromatosis is most common in individuals of European descent, it remains a relatively rare genetic condition globally. Early detection and treatment are crucial for those at risk of developing iron overload and its associated complications.

Ironbound™ A Strategy For The Management Of Hemochromatosis