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Iron Overload Diagnosing and Treating Essay

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Updated: Apr 12th, 2022


At times, iron accumulates in the body for a number of reasons. Elimination of excess iron is possible. In this paper, the author explored literature from seven published articles relating to the diagnosis and treatment of iron overload. The various causes of the overload were discussed. The articles explain the classification of this disorder and the kind of people who are most likely to be affected by the condition. Characteristics of individuals who are likely to be attacked by the disorder were clearly identified. The traits include genetic inheritance and mutation. Possible complications that may result from the disorder were also clearly outlined in this paper. Diagnosis of iron overload involves a step by step process, which was discussed in this paper. There are different ways of treating the problem. They include conventional methods and emerging techniques. The author of the paper found that many people, including both young and old, die from the disorder. The paper concluded by highlighting different strategies that can be adopted to avert the adverse impacts of the problem. The move will reduce the number of deaths related to the condition.

Key words: iron overload, diagnosis, treatment


Iron overload is also referred to as hemochromatosis. The disorder affects human beings. It is associated with excessive absorption of iron from food and drinks. The condition is more common among men than in women. Most women lose blood during their menstrual cycle. When this happens, any surplus iron is removed from the body. The disorder damages various organs in the body, such as the liver. If not treated on time, it may affect the pancreas. The damage of this organ leads to diabetes. Cancer and heart diseases are other complications associated with the disorder. The two secondary conditions are caused by hereditary iron overload. High levels of iron in the body results in a change in skin colour. The skin of individuals suffering from the condition is bronze in colour.

In this literature review, the author is going to analyse a number of issues related to this condition. The issues addressed include causes of the condition, types, signs and symptoms, possible complications, diagnosis, as well as treatment.

Literature Review

Causes of Iron Overload

Iron overload can be caused by different factors. Healthy individuals take up about 11% of the iron in their food and drinks. When the compound is enough in the reserves, the body induces an action that prevents further absorption. The body does this to regulate the levels of the compound and avoid it from accumulating, something that may be harmful (Bulaj et al., 2000).

One major cause of iron overload is genetic inheritance. People with this problem tend to take up to 31% of iron ingested. According to medical experts, this is a very high rate. The body is unable to get rid of all the iron. It ends up getting accumulating in tissues and organs in the body. The build-up of iron in these tissues interferes with their normal functioning (Camaschella, 2005). The problem can result in organ failure. It may also lead to the onset of various chronic diseases. Apart from genetic inheritance, hemochromatosis can also be caused by too much intake of iron and iron supplements. The body may have difficulties regulating the levels of the compound in case of an overload.

Types of Iron Overload

There are four broad categorisations of this condition. The four are discussed below:

Primary hemochromatosis

It is one of the most common types of this condition. It is brought about by gene mutation. The alteration of genes can take place at birth. Genes determine how an individual will survive, how they will look like, and how they will be affected by the environment. Mutation changes the normal functioning of the genetic material, affecting the whole body in the process (Origa et al., 2007).

There is a gene that controls the amount of iron that human beings absorb from their daily take of the compound. It is referred to as HFE. The gene mutates to form two others. The first is C282Y. The other is H63D. It is not common for a person to have two sets of H63D. According to studies and evidence from medical practice, a person with only one gene is not likely to be affected by the problem. Such an individual is a carrier (Camaschella, 2005). However, that does not mean that this person will absorb normal levels of iron in their body. The absorption will be controlled as the body organs will be able to get rid of some of it. Persons with a single C282Y and a single H63D are also likely to be affected by the problem.

Secondary hemochromatosis

It is the second type of this disorder. It arises from another problem or incident. In this case, the individual affected does not have any gene mutations. Some diseases affecting red blood cells, such as atransferrinemia, can trick the body to absorb a lot of iron. Such problems relating to red blood cells are rare and are mostly hereditary. Long time kidney dialysis is also known to cause the problem. Oral iron pills or injections can also lead to the onset of the disorder. In addition, blood transfusion is known to be another cause of the problem. The reason is that some disorders related to the blood are known to be very harmful. Some of these conditions include thalassemia (Camaschella, 2005). Researchers have also discovered that containers made of this compound release iron that is harmful to the body. Taking drinks from these packages can increase risks of contracting the disease.

Juvenile hemochromatosis

The build-up of the iron occurs when one is young. However, the symptoms start appearing in late twenties and early thirties. The disorder is hereditary among the young persons. The condition is related to the alterations of the hemojuvelin gene. If left untreated, the problem can be dangerous as it can affect the sexual development of the individual. The situation may also lead to diabetes (Camaschella, 2005).

Neonatal Hemochromatosis

It occurs among infants. In this case, iron accumulates in the liver of the child. The child is not likely to survive if affected by the disorder (Origa et al., 2007).

Signs and Symptoms of the Disorder

The condition is associated with various indicators. When one sees some of them, they should seek medical help at once. Individuals affected by the disorder have high levels of blood sugars. In addition, they complain of pain in the joints. There is also a reduction in libido and in the size of testicles among men. Skin colour changes to bronze in both men and women (Bulaj et al., 2000). Women may stop menstruating. Abdominal pains, general body weakness, and weight loss in both sexes is reported. Victims may also feel fatigued. Low thyroid function is another sign associated with the disorder.

Possible Complications of the Disorder

If this disorder is not treated in time, it can lead to a number of complications. The complications include cirrhosis of the liver, liver cancer, diabetes, and arrhythmias. It may also result in heart failure and change in skin colour. Irregular heart rhythms may lead to other complications, especially among the respiratory organs (Kalinowski & Richardson, 2005).

Diagnosis of Iron Overload

A person with the signs and symptoms highlighted above may be diagnosed for the disorder through blood tests. The evaluations are carried out to assess iron overload in the body. The problem can be detected even before the signs and symptoms manifest themselves. During these examinations, saturation of serum transferrin in the body is also analysed. The complex transports iron in the body. If the saturation levels are over 45%, then the individual may likely be suffering from the disorder (Duffy et al., 2001). Assessments of serum ferritin in the blood are carried out. The aim is to establish the quantity of iron reserves in the body. The two blood tests (for transferrin and ferritin) are done together (Ludwiczek, Aigner, Theurl & Weiss, 2003). Liver biopsy is performed to determine the amount of iron in the liver. It is also carried out to detect any damages to the organ. Genetic testing is also conducted on the blood to identify if the individual carries the HFE gene.

Iron Overload: Treating the Disorder

The disorder can be treated using medications. Some of them include Chelation. Examples of these drugs include desferrioxane, deferiprone, and deferasirox. Apart from medication, venesection is also known to treat the disorder (Duffy et al., 2001). It involves regular removal of infected blood from the body on a weekly basis. The procedure is terminated when the levels of iron in the body fall back to normal (Barton, Preston, McDonnell & Rothenberg, 2001). The physician can only opt for this procedure if the patient has enough levels of haemoglobin.


Some patients ignore some of the indicators of iron overload. The reason is that most of them are ignorant of the condition. It is also possible for medical practitioners to misdiagnose the disease. For these reasons, it is advised that patients who present the symptoms should be taken through a rigorous testing procedure to rule out the disease. Iron has a number of benefits on the body. However, if it is allowed to accumulate for long, the health of the individual is jeopardised. A number of health institutions have acquired modern technology to deal with this problem. The reason behind this is that the disease continues to claim the lives of many people.

Pregnant women are at high risk of developing the condition or passing it across to the unborn child. For this reason, mothers should take responsibility and go to clinics for regular checkups before birth. The checkups are important as they help medical practitioners to determine whether or not the unborn child has normal levels of iron. If it is determined that there are problems with the levels of this compound in the child, interventions can be made. For example, the mother may be put under medication to help correct the situation. Such a move may avert the death of the unborn child. It is noted that iron reduction therapy is affordable. As such, individuals suffering from the condition can lead a healthy life.

More research needs to be conducted in this field of iron overload. For example, future studies may focus on the social and economic impacts of the condition on the individual and their family. Such studies will provide more information on the nature of the condition.


Barton, J., Preston, B., McDonnell, S., & Rothenberg, B. (2001). Severity of iron overload in hemochromatosis: Effect of volunteer blood donation before diagnosis. Transfusion, 41(1), 123-129.

Bulaj, Z., Ajioka, R., Phillips, J., LaSalle, B., Jorde, L., Griffen, L.,…Kushner, J. (2000). Disease-related conditions in relatives of patients with hemochromatosis. New England Journal of Medicine, 343(21), 1529-1535.

Camaschella, C. (2005). Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders. Blood, 106(12), 3710-3717.

Duffy, S., Biegelsen, E., Holbrook, M., Russell, J., Gokce, N., Keaney, J., & Vita, J. (2001). Iron chelation improves endothelial function in patients with coronary artery disease. Circulation, 103(23), 2799-2804.

Kalinowski, D., & Richardson, D. (2005). The evolution of iron chelators for the treatment of iron overload disease and cancer. Pharmacological Reviews, 57(4), 547-583.

Ludwiczek, S., Aigner, E., Theurl, I., & Weiss, G. (2003). Cytokine-mediated regulation of iron transport in human monocytic cells. Blood, 101(10), 4148-4154.

Origa, R., Galanello, R., Ganz, T., Giagu, N., Maccioni, L., Faa, G., & Nemeth, E. (2007). Liver iron concentrations and urinary hepcidin in β-thalassemia. Haematologica, 92(5), 583-588.

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