What is hemochromatosis and how does it affect the body?

Hemochromatosis, also known as iron overload disease, is a disorder in which iron accumulates in the body at harmful levels. The body needs iron to produce healthy red blood cells that carry oxygen, but levels that are too high become toxic. When a person has hemochromatosis, they absorb more iron than they need, and the body does not have a natural, effective way to get rid of this excess iron. Instead, the additional iron is stored in body tissues, especially in the liver, heart, and pancreas, which can lead to damage and failure of these organs if left untreated [2].

Types of Hemochromatosis

There are two main types of hemochromatosis:

• Primary (Hereditary) Hemochromatosis: This is the most common type and results from genetic mutations. This means the condition is inherited within families [3].
• Secondary Hemochromatosis: This type usually occurs as a result of other medical conditions, such as certain types of anemia, liver disease, or frequent blood transfusions [2].

How Does Excess Iron Affect the Body?

The accumulation of excess iron in vital organs can lead to a wide range of health problems. Common symptoms of hemochromatosis include fatigue and general weakness, joint pain (especially in the knees or hands), abdominal pain (over the liver), loss of libido or erectile dysfunction, and a change in skin color to gray, bronze, or metallic [1]. These symptoms usually worsen over time and may not appear in everyone [2].

• Liver: The liver is the primary organ for iron storage, and iron accumulation in it can lead to liver damage, including cirrhosis [3].
• Heart: Excess iron can affect the heart muscle, potentially causing heart rate or rhythm problems (arrhythmias) [1].
• Pancreas: Iron accumulation in the pancreas can lead to damage, which may affect insulin production.
• Joints and Endocrine Glands: Excess iron can cause joint pain [3] and affect endocrine glands, potentially leading to hormonal problems [3].

Diagnosis of Hemochromatosis

The diagnosis of hemochromatosis is based on medical and family history, a physical examination, and the results of certain laboratory tests. Key tests that help in diagnosis are blood tests that measure iron levels and certain iron-related proteins in the blood, such as a ferritin test [1]. Ferritin is a protein that stores iron in the body, and its high levels may indicate too much stored iron [1]. Genetic testing can also be performed to check for the mutations that cause this disease [3]. In some cases, doctors may perform a liver biopsy to confirm the presence of iron accumulation [3].

Importance of Family Screening and Next Steps

Because primary hemochromatosis is a hereditary condition, family screening plays a crucial role. If an individual in the family is diagnosed with the disease, it is important for other family members to undergo the necessary tests to check their iron levels, even if they show no symptoms. Early detection can prevent serious organ damage. If test results are abnormal, it does not always mean there is a medical condition requiring treatment, as some medications or other conditions can affect ferritin levels [1]. Therefore, it is essential to consult a doctor to discuss the results and determine the next steps. You can learn more about hemochromatosis and family screening (Arabic).

Medical references

• Ferritin Blood Test
• Hemochromatosis
• Hemochromatosis