Hemochromatosis (Hereditary Hemochromatosis) | Iron Overload

Hemochromatosis is a medical condition in which your body absorbs and stores iron more than its needs. Hemochromatosis occurs in two forms, primary (hereditary) and secondary, and we will discuss the 1st one. To understand hemochromatosis, we need to know how our bodies get and store the iron and what happens when we get too much of it.

Iron is an essential trace mineral that your body needs to build necessary structures and regulate vital functions. It enters the composition of hemoglobin (in red blood cells) and myoglobin (muscles protein). It maintains cognitive functions, immune functions, healthy skin, blood oxygenation, and metabolic processes. Most of your body functions need iron in some way. Iron is vital, but too much iron is toxic for your body.

You get your iron from the diet; it is present in many foods. Your intestine absorbs only the iron amount that your body needs (intestinal mucosal block). The human body has no way to get rid of the excess iron; thus, it stores the excess iron in the liver without any harm (one gram or less).

In hemochromatosis, Your body absorbs more than its needs, and it can’t get rid of it. Thus, it will store this extra iron in your organs. Your body will deposit this excess iron in the liver, heart, pancreas, skin, gonads, and joints. Iron is toxic for all of these organs; it damages them and may end in death.

Hereditary hemochromatosis is the most common type. You inherit abnormal genes from your parents, which disrupts the mucosal block. You should inherit two abnormal copies of the abnormal gene to develop symptoms that usually occur at midlife. The presentation will depend on the affected organs. The iron deposition in each organ causes different symptoms. Without a proper management plan, this disease can result in life-threatening complications and end in death.

Hemochromatosis is a fairly common disease. About a million Americans have it. It is more common in the withe races with Northern European ancestry than in other races. Its presentation becomes more common with age because it develops over many years. It also affects men more than women because women can lose iron with the blood of menstrual cycles. It is a genetic disease; thus, family history is a risk factor.

Diagnosis of this disease is difficult because its manifestations are similar to many conditions. Also, many people may carry the disease without symptoms. You may discover it when you find high blood iron during routine investigations or investigating another problem. When your doctor takes your medical history and examines you, he will suspect that you may have hemochromatosis. Then, he will order investigations to confirm this suspicion and look for the complications.

Your doctor will put a management plan to normalize your iron levels as possible. Also, your doctor will recommend diet modifications to aid the treatment.

Now, let’s see this disease in more detail. We will discuss:

  • What does cause this disease, and who is at risk of it?
  • Which manifestations does the excess iron cause, and what are the possible complications?
  • How can your doctor diagnose if you have hemochromatosis?
  • How can your doctor control this condition, and what are the available treatment options?

Causes and risk factors of hemochromatosis

Hereditary hemochromatosis (Primary or classical) is a genetic disease (one of the most common). It is an autosomal recessive disease; thus, you should inherit two copies of the mutated HFE gene to develop it. HFE gene lies on the short arm of chromosome 6 and controls how much iron your body absorbs from the food. This gene shows two common mutations, H63D and C282Y.

  • If you inherited two mutated copies of HFE, you might develop the symptoms of hemochromatosis. Also, you will pass the mutation to your children. But, not everyone who has two mutated copies will develop the disease.
  • If you inherited one mutated copy of HFE, you would be at less risk of having hemochromatosis. But, you carry the mutation, and you may pass it to your children.

But, your children wouldn’t develop this disease unless they inherited another mutated copy from the other parent.

Some people are at a higher risk of hemochromatosis, such as:

  • Men develop this disease more than women. Women lose iron with menstruation. Thus, the complications are less common among them, and the symptoms may only appear after menopause.
  • Positive family history
  • Old age (because iron accumulation takes years to be toxic)
  • White races with Northern European ancestry

Written by Martin Davis