Hereditary hemochromatosis Save

Understanding Hereditary Hemochromatosis

Hereditary Hemochromatosis, also known as HHC, is a genetic disorder that causes the body to absorb too much iron from food. This excess iron is stored in various organs and tissues, such as the liver, heart, and pancreas, which can cause damage over time.

HHC is one of the most common genetic disorders in the United States, affecting about 1 in 250 people, primarily those with European ancestry. The condition is caused by mutations in the HFE gene, which regulates the absorption of iron in the body.

Symptoms of Hereditary Hemochromatosis

The symptoms of HHC can vary widely between individuals and may not appear until later in life. Some common symptoms include:

1. Fatigue
2. Joint pain
3. Abdominal pain
4. Loss of sex drive
5. Impotence
6. Irregular heartbeat
7. Diabetes
8. Cirrhosis of the liver

It's important to note that not everyone with HHC will experience symptoms, and some may only have mild symptoms that go unnoticed.

Diagnosis of Hereditary Hemochromatosis

Diagnosing HHC can be challenging because the symptoms are often nonspecific and can be mistaken for other conditions. However, a blood test can measure the amount of iron in the body, as well as the levels of ferritin and transferrin, which are proteins that transport iron in the blood.

If the blood test shows high levels of iron, genetic testing can confirm the presence of HHC. Family members of those with HHC may also be tested to determine if they carry the gene mutation.

Conclusion

Hereditary Hemochromatosis is a genetic disorder that causes the body to absorb too much iron, which can lead to organ damage over time. Symptoms can vary widely and may not appear until later in life. Diagnosis can be challenging, but a blood test and genetic testing can confirm the presence of the condition. If you have a family history of HHC or are experiencing symptoms, speak with your healthcare provider about testing options.