Iron Overload or Hemochromatosis: Causes, Symptoms and Treatment
What is Iron Overlaod?
Iron Overload or otherwise called Hemochromatosis is a condition when the body accumulates too much iron in the body and builds up in the body's tissues and organs. Iron is necessary for the basic metabolic processes in the body such as oxygen transport and DNA synthesis. But if it is present in excessive amounts, it can lead to the damage of body organs such as the liver, heart and endocrine glands in the course of time.
What Causes Iron Overload?
A person can have Iron Overload in two ways: (1) if it is hereditary or genetically acquired and (2) If it is acquired during life.
Hereditary hemochromatosis: Iron overload may be inherited from the defective gene of both parents. The parents may not suffer from the same condition but as carrier of the defective gene can pass it to their offspring (not necessarily to every one of them). Please refer to the diagram below.
These defective genes are present at birth but symptoms rarely appear at birth. Usually, the symptoms appear before adulthood. The presence of this genetic disorder causes excessive absorption of iron from food or deficient transport and use of iron where the body needs it. It is observed that 10% of People of Celtic origin are carriers of this hemochromatosis gene.
What are the Symptoms of Iron Overload?
Early symptoms present with iron overload include fatigue, weakness, weight loss, abdominal pain and joint pain. However, since these also occur with other common diseases, it is difficult to accurately diagnose hemochromatosis.
As the disease progresses, symptoms depend on which organs are being affected by iron build-up. Additional symptoms that can be observed include loss of menstrual periods, loss of sex drive or impotence, loss of body hair and shortness of breath.
When the following symptoms appear, it is indicative that iron overload is in its advanced stage.
- Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
- High blood sugar and diabetes
- Abdominal pain that does not go away
- Severe fatigue (feeling extremely tired and having a lack of energy)
- Heart problems (such as a heart beat that is not regular)
- Heart failure (such as the heart not pumping blood as well as it did previously)
- Bronze-colored skin in fair-skinned people
How Hereditary Hemochromatosis Occur
Acquired hemochromatosis: Iron overload can be acquired during life in a variety of ways. It can be acquired from intake of excess iron supplements or excess iron in the diet. There have been cases of neonatal overload or when children consume their mother's iron supplements.
It can be acquired from multiple frequent blood transfusions. Studies show that it can develop after as few as 10 transfusions especially if the patient does not receive effective iron removal therapy.
It is also found common among patients who have diseases of the liver, such as alcoholic liver disease and chronic hepatitis C and B infections. These diseases promotes increased iron storage though there is no clear explanation for this occurrence yet.
Treatment: What should I do if I have Iron Overload?
The first step to take if you are experiencing the above symptoms is to undergo tests that would determine if you have iron overload. The earlier it is detected and treated, the better it is to slow its progress and prevent organ damage.
The most commonly used test for iron overload is serum ferritin. Consistent serum ferritin levels that is >1000 mcg/L are suggestive of iron overload. For those who have iron overload because of regular blood transfusions, monitoring of the patient's number of transfused blood units is also conducted.
Other tests that may be conducted are biopsies of the liver or the heart, which provides direct information about the structure, function, and extent of iron deposition within the corresponding organ. However, both tests may not provide a true estimate of iron content, particularly in the early stages of disease. MRI or imaging studies also provides a non-invasive alternative to liver biopsy. It may be even more accurate compared to biopsy in patients with heterogeneous liver iron deposition.
Routine treatment of iron overload consists of regularly scheduled phlebotomies or bloodletting. In bloodletting, considerable amount of blood is withdrawn from a patient to cure or prevent the illness. When first diagnosed, the phlebotomies may be fairly frequent, as often as once a week, until iron levels are lowered to within normal range. Once the normal range is reached, phlebotomies may be scheduled every other month or every three months depending upon the patient's rate of iron loading.
For those unable to tolerate routine blood draws like blood transfusion dependent patients, there is a chelating agent available for use. An example is the drug Deferoxamine. It binds with iron in the blood stream and enhances its elimination via urine and feces. It is administered via subcutaneous injection over a period of 8-12 hours daily for patients with chronic iron overload.
Watch this video as a recap of What is Hemochromatosis
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