Understanding Hemochromatosis: Causes, Symptoms, and Management

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Hemochromatosis

by Alike Medical Team ∙ Updated on June 13, 2023

General

Hemochromatosis is a disorder in which there is an excessive buildup of iron in the cells. Iron can accumulate in the liver, skin, heart, pancreas, joints and pituitary gland and cause these organs damage. Primary or hereditary hemochromatosis is caused due a mutation in the HFE gene which controls the amount of iron absorbed from the food. Even though the condition is hereditary, symptoms usually start at the age of 40 for men and 60 for women. Also, males are more likely to develop complications. Secondary hemochromatosis results from different medical conditions such as erythropoietic hemochromatosis- a condition in which the red blood cells are fragile and release too much iron to the blood flow. Other reasons may be alcoholism, iron supplements, vitamin C supplements, frequent blood transfusion or a family history of diabetes, heart disease, or liver disease. Complications of hemochromatosis include liver failure, diabetes, arthritis, arrhythmias, heart failure, skin discoloration, adrenal glands damage, menstrual irregularities and erectile dysfunction.

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Signs & symptoms

Hemochromatosis symptoms may include abdominal pain, bronze or gray skin color, joint pain, fatigue, weakness, weight loss, low sex drive and memory fog.

Diagnosis

Hemochromatosis diagnosis will start with medical history and physical examination. Then, a blood test for transferrin saturation measures iron levels and liver functions For primary hemochromatosis a genetic test may be performed to look for the mutation in the gene. Liver biopsy may indicate how much iron is stored in the liver.

Treatment

Treatment for hemochromatosis may include phlebotomy- taking blood, and iron, out of the patient’s body. Another possible treatment is called chelation, which aids the body in taking out excess amounts of iron in the urine or stool. It is done orally or by injection and it is suitable for people who cannot go through phlebotomy.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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