HFE2
HFE2: A Gene with Major Implications for Iron Regulation and Health
Description
The human HFE2 gene, located on chromosome 6, encodes a protein called hemochromatosis protein type 2 (HFE2). HFE2 plays a crucial role in iron regulation, controlling the absorption and storage of iron in the body. It functions as a membrane-bound protein in the liver, where it interacts with transferrin receptors to modulate iron uptake.
Associated Diseases
Mutations or variations in the HFE2 gene can lead to several diseases and health conditions related to iron metabolism:
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Hereditary Hemochromatosis (HH): HH is an inherited disorder characterized by excessive iron accumulation in the body, primarily in the liver, heart, and pancreas. It can lead to serious health complications such as liver cirrhosis, heart failure, diabetes, and arthritis. Mutations in the HFE2 gene are common in people with HH.
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Iron Overload: HFE2 mutations can also result in non-inherited forms of iron overload, where the body accumulates excessive iron from various sources, including blood transfusions, dietary supplements, or certain medical conditions.
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Iron Deficiency: Conversely, some HFE2 mutations can impair iron absorption, leading to iron deficiency anemia.
Did you Know ?
Approximately 1 in 200 people of Northern European descent carry mutations in the HFE2 gene that increase their risk of developing HH. This makes HFE2 the most common genetic cause of iron overload disorders worldwide.
