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Hemochromatosis



What is Hemochromatosis?


Hemochromatosis is a disease that is caused by faulty high iron Fe (HFE), which is considered the 'master' gene in charge of producing iron. Hemochromatosis can be caused by a variety of factors, some including faulty genes and other diseases. There are two types of hemochromatosis: Primary hemochromatosis and secondary hemochromatosis. Although these two types of hemochromatosis are variations of the same disease, primary and secondary hemochromatosis are entirely different.


Before you get to know about any type of hemochromatosis, you need to understand what essentially causes the disease: iron.


Iron is an essential dietary mineral that can lead to an iron overload. Iron is stored mainly in the liver, so if you have any sort of liver disease or disorder, the iron storage in your liver may be affected. Iron is also an important part of hemoglobin which is responsible for delivering oxygen to all your body's blood cells. Although this may sound like a pretty good thing, it is not since too much iron is toxic for your body and can lead to an iron overload and potentially hemochromatosis. There are two types of dietary iron: Heme iron and Non-Heme iron.


Heme iron: Heme iron is the iron you get from animal food, especially red meat.

Non-Heme iron: Heme iron is the iron you get from animals or plants.


Primary hemochromatosis


Primary hemochromatosis is caused by defective HFE genes that are the main 'in charge' of the iron intake in your body. So if the genes in your body that control your iron intake are defective, then you are at risk of consuming more iron than necessary, which is unhealthy.


Primary hemochromatosis is hereditary. Here are some possibilities of how you can get this life-changing disorder:

  • If you inherit two faulty HFE genes (one from each parent), then you are at risk for an iron overload.

  • If you inherit one faulty HFE gene and one normal HFE gene, then you are a hemochromatosis carrier. That does not necessarily mean that you will get the disease, but your offspring may or may not get the disease.

  • If both parents carry the faulty HFE gene, then their children have a ¼ chance of inheriting two faulty genes.


Secondary hemochromatosis


Secondary hemochromatosis is much rarer than primary hemochromatosis and is usually a result of another disease or disorder you have that has iron overload as its side effects. Some diseases, disorders, or ways to cause this type of hemochromatosis are anemia, chronic liver disease, kidney dialysis, blood transfusions, oral iron pills, and iron injections.


Symptoms


Sometimes, patients with hemochromatosis don't even realize they have the disease until it gets serious. The symptoms of hemochromatosis may develop with symptoms of other diseases, so you cannot even tell if the symptoms you are experiencing are of a specific disease. Here are some common symptoms of hemochromatosis:

  • Joint pain

  • Abdominal pain

  • Fatigue

  • Weakness


These symptoms can also be the cause of your work, stress, or some medical condition. Although these symptoms are not a thing to worry about, they should not be overlooked. If the symptoms worsen, that could increase discomfort in your life, or they could be indicators of another medical condition. If the symptoms worsen, the best thing to do would be to consult a doctor. If you do not take the symptoms seriously, then there are significant problems that can be caused by an excessive iron buildup, such as:

  • Liver disease

  • Heart problems

  • Diabetes

  • Joint pain which could lead to arthritis

  • Change in skin colour (grey or bronze)


Treatment


Treatment of this disease is not as life-changing or intense as the treatments for other diseases. The treatment of this disorder will mainly focus on:

  • Reducing iron levels

  • Preventing/delaying organ damage

  • Preventing complications from getting worse

  • Maintaining a healthy iron level throughout your life


When you go see your doctor, they will recommend the best type of treatment for you that could involve: therapeutic phlebotomy, which is the removal of blood to keep your iron levels in control, iron chelation therapy which involves using medicine as a means to remove excess iron, and finally, diet changes to reduce your daily iron intake.



Article author: Twisha Bhatt

Article editors: Sherilyn Wen, Victoria Huang