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Hemochromatosis (Iron Overload) – Causes, Symptoms and Treatment

What is hemochromatosis?

Hemochromatosis is a condition in which iron absorption and accumulation in the body increases. It is a rare disorder with less than a million cases recorded each year in India.

Your intestines are responsible for absorbing iron from the food you eat. In the condition of hemochromatosis, the intestines absorb more iron than required. Due to this lack of regulation of iron absorption, a build-up of iron can occur in your body. It is, therefore, also called the ‘iron overload’ condition. 

The excess iron gets accumulated in various organs giving rise to many signs and symptoms. With time, it can cause organ poisoning and can result in cancer, liver cirrhosis, and other such fatal conditions.

What are the types of hemochromatosis?

There are two main types:

Primary hemochromatosis

Usually, the intestines absorb the iron from the food you eat and then transfer the mineral into the blood as needed. The gene HFE helps to regulate iron absorption by your intestines.

In primary hemochromatosis, there is a mutation of the HFE gene. There can be two mutations of the gene, C282Y and H63D, with the former being more common.

You can develop primary hemochromatosis if you inherit a copy of the mutated gene from each parent. If you inherit just one copy, you will likely be a carrier and not present with any symptoms.

Secondary hemochromatosis

Hemochromatosis caused due to any reason other than genetic mutation is secondary hemochromatosis. Any underlying medical condition which affects iron absorption and causes an accumulation results in secondary hemochromatosis. Some of these conditions are explained below:

  • Frequent blood transfusions can increase the iron concentration in the blood once the red blood cells break down. 
  • Anemia, a condition in which the body is unable to produce sufficient red blood cells, can increase iron levels in the body.
  • Chronic liver disease
  • Regular kidney dialysis

What are the symptoms?

Symptoms are usually not noticeable until quite late in life. In men, the symptoms can present at around 40 years of age. Comparatively, women exhibit symptoms 10 (or more) years later; this is primarily because of the menstrual cycle that naturally keeps iron levels in check.

The common symptoms include:

When should I consult a doctor?

Contact your doctor if you have any of the above-mentioned signs or symptoms. Also, if any of your family members are diagnosed with hemochromatosis, consult your doctor to get genetic testing done. It will help you determine if you are also at risk.

How does hemochromatosis affect my body?

The red blood cells in your body contain four protein molecules, called heme, along with iron. Iron binds with oxygen and helps the red blood cells transport oxygen to your organs through blood circulation. Iron, therefore, has access to the various systems in your body.

You lose some amount of iron daily through sweating and shedding of the cells in the digestive tract and skin. When the iron absorbed corresponds to the amount of iron required and lost, there is equilibrium in the concentration of the mineral in your body.

In hemochromatosis, the absorption of iron increases, causing its accumulation. The excess iron gets deposited in various organs such as the liver, pancreas, heart, joints, skin, and pituitary glands.

Iron naturally forms free radicals through a process called ‘Fenton reaction’. The free radicals formed cause damage to cells in the organ, eventually resulting in cell death. 

Accumulation of iron takes place over time. The damage, thus, sets in later, about 40-50 years of age, giving rise to symptoms.

Am I at risk of developing hemochromatosis?

Following are the risk factors of hemochromatosis:

  • Genetic: A family history (parents, grandparents, siblings) of positive diagnoses can increase your chances of hereditary hemochromatosis.
  • Descent: Hereditary hemochromatosis is more common in Northern Europeans as compared to any other ethnicity.
  • Postmenopausal or hysterectomy: Menstrual bleeding enables natural regulation of iron levels by removing the excess mineral from the body. Post menopause or hysterectomy, women are at higher risk of developing symptoms of hemochromatosis.
  • Alcoholism: Excessive alcohol consumption can cause additional liver damage and increase the risk of liver cancer and other life-threatening conditions.
  • Supplements: Dietary supplements of iron or vitamin C can increase the iron levels in your body.
  • Frequent blood transfusions: Blood cells break down to release iron in the body after about 120 days. Frequent blood transfusions can increase the amount of iron in your body and give rise to secondary hemochromatosis.

How can hemochromatosis be diagnosed?

Early symptoms such as tiredness and joint pain can be explained by a number of other causes. Most people may only present with abnormally high iron levels. 

Either a family history of hemochromatosis or abnormal findings of routine blood tests can guide a medical professional to a diagnosis. The two blood tests for detecting hemochromatosis are serum transferrin and serum ferritin tests.

Genetic testing can also help confirm a diagnosis. Additional testing may include liver function tests, liver biopsy, and MRI to measure the extent of damage to the liver due to hemochromatosis.

What are the treatments available for hemochromatosis?

The best treatment for hemochromatosis is removing blood from the body (phlebotomy). It is a process just like donating blood, except it helps to normalize the levels of iron in your body.

The amount and frequency of blood removed as treatment depend on individual factors like your age, health, and the severity of your condition. 

Phlebotomy can help alleviate your symptoms and reduce the risk of organ damage. It cannot, however, reverse liver cirrhosis, as it is permanent damage to your liver. In such cases of liver cirrhosis, regular screening for cancer is essential.

Chelation is a process in which a medication binds with the excess iron and removes it through urine or stool. The medicine can either be a pill or an injection. It is the recommended therapy if you have anemia or any underlying heart condition that will rule out phlebotomy. 

What are the complications of hemochromatosis?

If hemochromatosis is left untreated, the excess iron gets deposited in various organs and can cause organ damage.

  • In the liver, excess iron can cause liver cirrhosis (permanent scarring of the liver). It increases the risk of developing liver cancer.
  • Iron deposition in the pancreas can damage the cells responsible for producing insulin, causing an increased risk for type 1 diabetes.
  • Iron deposition in the heart can cause cardiomyopathy. It can also cause abnormal heartbeats (arrhythmia) and congestive heart failure.
  • Deposition in the skin can make the skin darker and even bronze or gray coloured.
  • Joint pain is a common symptom due to iron deposition in joints, which can give rise to early arthritis.
  • In the reproductive organs, hemochromatosis is known to cause erectile dysfunction in men and menstrual irregularities in women.

Conclusion

Treating hemochromatosis can help prevent dangerous complications such as liver disease, heart conditions, and diabetes. It can help slow the disease progression and, in some cases, reverse the damage to your body.

Frequently asked questions (FAQs)

Is hemochromatosis a potential threat to life?

When left untreated, hemochromatosis can cause severe complications such as liver cirrhosis and heart conditions.

Can hemochromatosis be cured?

There is no cure for hemochromatosis. However, treatments can reduce iron levels in the blood.

What supplements should I avoid with hemochromatosis?

Avoid multivitamins containing iron and iron supplements as they can increase the iron levels in your body. Also, avoid vitamin C supplements as they accelerate iron absorption in your intestines.

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