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Understanding Hemochromatosis: Symptoms, Causes & Treatment

Team AckoJun 23, 2024

Did you know that iron, a necessary element for the human body, can be dangerous and lead to organ toxicity when absorbed in excess? This article discusses a condition called Hemochromatosis, which pertains to excess iron deposition in the human body. Read further to learn about the causes, symptoms, diagnosis, and treatment of Hemochromatosis.

Contents

What Is Hemochromatosis?
What are the causes of Hemochromatosis?
What are the signs and symptoms of Hemochromatosis?
Which factors increase the risk of Hemochromatosis?
How to diagnose Hemochromatosis
What is the treatment for Hemochromatosis?
Frequently Asked Questions (FAQs)

What Is Hemochromatosis?

Hemochromatosis is a condition in which excess iron deposits in the body to a level that can be dangerous. The extra iron buildup in the body can cause severe multiple-organ dysfunction. This is why it is also called ‘iron overload.’

Normal intake of iron in males is 80 to 180 mcg/dL and in females is 60 to 160 mcg/dL. The iron intake in children is 50 to 120 mcg/dL. Iron levels above this range are considered high and need medical attention.

Usually, the human body absorbs just the right amount of iron from food. But in the case of Hemochromatosis, the body absorbs excess iron and does not have a way to excrete the excess. Hence, it stores the excess iron in the organs such as the pancreas, liver, and heart. Hemochromatosis is also known as ‘bronze diabetes’ as it causes skin discolouration.

What are the causes of Hemochromatosis?

The cause of Hemochromatosis can be genetic or due to any condition and treatment that requires a blood transfusion. Based on the cause, Hemochromatosis is of two types.

Primary Hemochromatosis: Also called hereditary Hemochromatosis, it is the most common type. It is caused due to a mutation (change) in the gene that controls the amount of iron the body absorbs from food. This type of Hemochromatosis runs in families. If a child gets two genes causing the condition, one from each parent, they are at a higher risk of developing the disease.
Secondary Hemochromatosis: It is also called transfusional Hemochromatosis. It occurs due to erythropoiesis (a process of developing red blood cells or RBCs) disorders and the treatment of diseases with blood transfusions. The macrophages, white blood cells, damage the transfused red blood cells. The iron released is then accumulated in the body, causing an excess of iron deposits. The conditions causing it include sickle cell anaemia, thalassemia, X-linked sideroblastic anaemia, private kinase deficiency, and hereditary spherocytosis.

What are the signs and symptoms of Hemochromatosis?

Some people suffering from Hemochromatosis do not show any symptoms and do not have any problems, while others show severe symptoms. Symptoms often appear in middle age and look like symptoms of other conditions. The symptoms of Hemochromatosis may include:

Weakness
Fatigue
Irregular heartbeat
Joint pain
Stiff joints
Stomach pain
Grey or bronze skin colour
Loss of sex drive
Memory fog
Loss of body hair
Unexplained weight loss

Which factors increase the risk of Hemochromatosis?

Certain factors increase the likelihood of suffering from Hemochromatosis.

Family history: The most significant risk factor is a family history of the condition. If one or both parents or siblings, or first-degree relatives are suffering from the disease, then you are more likely to develop Hemochromatosis.
Ethnicity: Another risk factor is ethnicity. Primary Hemochromatosis is more common in people of northern European descent. People of other races are comparatively less prone to develop this condition.
Gender: Men are more likely to develop Hemochromatosis than women, as women get rid of iron through menstruation (monthly periods) and pregnancy leading to less iron storage than men, however, after a hysterectomy (surgery to remove the uterus or womb) and menopause (end of monthly periods), the risk of Hemochromatosis increases.

How to diagnose Hemochromatosis

The diagnosis of primary or hereditary Hemochromatosis is difficult. Sometimes the early symptoms can be indicative of other conditions. The critical tests for diagnosing the disease include blood tests and genetic screening.

Blood tests: Blood tests such as serum transferrin saturation and serum ferritin are done to check for abnormal levels of iron in the body. But abnormal iron levels can also be found in conditions other than Hemochromatosis.
Genetic testing: Another test is recommended for first-degree relatives of anyone diagnosed with Hemochromatosis. After all these tests indicate excess iron deposition in the body, Hemochromatosis is analysed, and a treatment plan is made for the patient.
Other tests: To confirm the diagnosis, additional tests such as liver function tests, MRI (magnetic resonance imaging) scan of the liver, tests for gene mutations, and liver biopsy (a sample of the liver is removed and tested in the laboratory for liver damage and presence of excess iron) are done.

What is the treatment for Hemochromatosis?

Correct treatment options and diet changes can help manage the symptoms of Hemochromatosis. The treatment focuses on removing the excess iron from the body and treating organ damage if any.

Lifestyle and dietary changes: Diet changes and avoiding iron supplements also help prevent the excess absorption of iron in the body. Alcohol should be prohibited entirely in this condition, as it can hasten liver damage.
Iron chelation therapy: Another treatment option is iron chelation therapy, which involves removing excess iron from the body through medications. These medications can be taken orally or injected into the blood. Any associated organ damage should also be treated effectively to prevent further complications.
Phlebotomy: The conventional treatment option is phlebotomy. It involves removing red blood cells, a major transporter of iron in the body, to reduce iron deposition. This procedure is performed once or twice a week until the iron levels are reduced to normal. After it is normalised, phlebotomy may be performed three to four times a year. It is a procedure to keep the iron levels under normal range.

Frequently Asked Questions (FAQs)

Here are some FAQs about Hemochromatosis.

What happens if a person has abnormal levels of iron in the body?

The amount of iron a human needs depends on age, sex, and pregnancy status. If a person absorbs less iron than the recommended dose, it can lead to a deficiency of iron in the body resulting in conditions such as anaemia. But suppose a human absorbs more than the recommended dose; in that case, it gets stored in various body organs, causing a condition called Hemochromatosis, which can further cause severe damage to multiple body organs.

What are the warning signs of Hemochromatosis?

The signs of Hemochromatosis include feeling tired most of the time, weakness, joint pain, irregular or absent periods, erectile dysfunction in men, and irregular heartbeat. Some people may not experience these symptoms but still suffer from Hemochromatosis. However, most of those who show symptoms experience them in middle age.

Is Hemochromatosis a severe condition?

Hemochromatosis is a condition in which excess iron is stored in the body, and it can potentially be dangerous, causing several health problems. If left undiagnosed and untreated, Hemochromatosis can lead to severe complications involving multiple body organs. The complications include liver cirrhosis (permanent scarring of the liver), liver failure, liver cancer, arthritis, diabetes, skin colour changes, heart problems, and testicular atrophy (shrinking of the testicles) in men.

Is Hemochromatosis curable?

There is no permanent cure for Hemochromatosis. But some treatments help decrease the amount of iron in the body. Phlebotomy, a procedure to remove excess iron, is performed regularly to manage the condition and prevent further complications. Certain precautions, such as avoiding alcohol, iron supplements, or vitamins containing iron and diet changes, also help manage the situation.

Is Hemochromatosis hereditary?

Yes, Hemochromatosis is a hereditary condition.

References

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