Hereditary Hemochromatosis
Description
Hereditary hemochromatosis (HH) is a genetic disorder that causes your body to absorb too much iron from the food you eat. This excess iron can build up in your organs, leading to damage over time. While it‘s a serious condition, early diagnosis and treatment can prevent complications. This blog provides information on HH, including symptoms, causes, diagnosis, management, and tips for thriving with this condition.
Genes Involved
HH is primarily caused by mutations in the HFE gene. Other genes involved include:
- HJV (hemojuvelin)
- TFR2 (transferrin receptor 2)
- SLC40A1 (ferroportin)
- FPN1 (ferroportin 1)
Recognizing the Signs and Symptoms
Early stages of HH often show no symptoms. As iron overload progresses, common symptoms may include:
- Fatigue
- Weakness
- Joint pain
- Abdominal pain
- Loss of appetite
- Skin discoloration (bronze-like)
- Heart problems
- Liver damage
- Diabetes
- Sexual dysfunction
If you experience any of these symptoms, it‘s crucial to consult a doctor for proper diagnosis and treatment.
Causes
HH is an inherited disorder caused by mutations in genes that control iron absorption in the small intestine. These mutations lead to excessive iron absorption, resulting in iron overload in the body.
Inheritance/recurrence risk
HH is an autosomal recessive disorder, meaning that both parents must carry the mutated gene for their child to inherit the condition. If both parents are carriers, there is a 25% chance their child will inherit HH, a 50% chance they will be a carrier, and a 25% chance they will not have the gene.
