Definition and Overview

Hemochromatosis is a hereditary condition characterized by the presence of excessive iron in the body.

Iron is one of the essential minerals of the body. It plays a critical role in transporting oxygen produced by the red blood cells by combining the said cells with hemoglobin.

However, the body requires only 13mg-19mg of iron per day and it doesn’t have any mechanism to get rid of excessive or unused iron. Once the capacity is exceeded, the iron is stored in other vital organs such as the heart, where it can cause significant damage that may lead to death.

Causes of Condition

Hemochromatosis is hereditary, but whether it’s autosomal recessive or dominant depends on the type. Type 4 is considered to be dominant, which means only one altered gene copy caused the development of the condition. The rest are autosomal recessive, which suggests that both of the gene copies are altered and that each of the parents has one mutated gene copy, only that they are asymptomatic. Of all the four types, type 1 is the most common, affecting at least one million people in the United States alone. The others are very rare that there’s very limited scientific literature about them.

There are also five types of genes that are affected by the mutation. These are TFR2, SLC40A1, HAMP, HFE, and HFE2. Although the specific roles of these genes vary, they all are similar in that they produce proteins that are necessary to control the absorption, storage, and delivery of iron. The mutated gene is according to type. For example, type 1 hemochromatosis involves an HFE mutated gene.

Key Symptoms

Some of the most common signs and symptoms of hemochromatosis include:

  • Abdominal pain
  • Fatigue
  • Memory fog
  • Poor concentration
  • Weight loss
  • Unusual color of the skin
  • Joint pain
  • Cardiomyopathy (thickening or enlargement of the heart)
  • Hair loss
  • Diabetes mellitus
  • Loss of sex drive
  • Amenorrhea
  • Impotence


However, hemochromatosis usually doesn’t present any symptoms at the earliest stages. Also, since the signs and symptoms are also present in other known conditions, there’s the likelihood that the condition can be misdiagnosed.

Of the four types of the condition, the earliest to show symptoms is type 2, which can begin during childhood. Women with the condition may experience very early menopause even if they start menstruating at a common age. Type 1 may be diagnosed during adulthood, although at different periods. Women, for example, may not experience the symptoms until they have already gone through menopause. Type 3 symptoms may appear before the person hits 30 years old.

Who to See and Treatments Available

Since the condition affects the blood, the patient may see a hematologist.

Various tests are typically performed to diagnose hemochromatosis. One of the most common is a blood test, which measures serum iron levels. Higher than normal range warrants additional exams, including the following:

  • Imaging tests such as CT scan, ultrasound, or X-ray to see any changes in the structure of the possibly affected organs such as the liver and the heart
  • Skin and liver biopsy
  • Physical exam
  • Endoscopy


As for treatment, phlebotomy remains one of the most effective methods. This requires the regular withdrawal of red blood cells from the body to stabilize hemoglobin levels. At the same time, the bone marrow is stimulated to produce more red blood cells, which will then acquire some of the stored iron in the body. Usually, the procedure is performed once a week or until the desired iron storage level is reached.

If the patient has poor venous access, an alternative is chelation. It is a therapy that uses an agent known as synthetic ethylenediaminetetraacetic acid (EDA) that binds heavy metals and minerals such as iron.

References:

  • Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-343.

  • Bacon BR, Britton RS. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease Pathophysiology/Diagnosis/Management. 9th ed. Philadelphia, Pa: Elsevier Saunders; 2010:chap 74.

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