Producing too much iron, a condition often associated with hereditary hemochromatosis, is most frequently linked to changes in a specific gene.
Hereditary hemochromatosis is a genetic disorder where the body absorbs too much iron from food, leading to iron overload in organs like the liver, heart, and pancreas. The primary cause for this condition, as highlighted by research, is related to inherited genetic factors.
The Role of the HFE Gene
The most common cause of hereditary hemochromatosis is an alteration in a gene known as HFE. This gene plays a crucial role in regulating the amount of iron absorbed from the diet.
- You inherit one copy of the HFE gene from each parent.
- Specific changes, or mutations, within the HFE gene can disrupt its normal function.
There are two particularly common mutations found in the HFE gene that are associated with iron overload:
- C282Y
- H63D
Inheriting certain combinations of these mutations can lead to hereditary hemochromatosis, causing the body to absorb and store excessive amounts of iron over time.
Genetic Testing for HFE Mutations
Genetic testing can help determine if an individual carries these specific changes in their HFE gene. Identifying these mutations is key to diagnosing hereditary hemochromatosis and understanding the risk of iron overload.
In summary, while other factors can influence iron levels, the most frequent underlying cause of hereditary hemochromatosis and subsequent iron overload is the presence of specific mutations, most commonly C282Y and H63D, in the inherited HFE gene.
