When the body absorbs more iron from food supplements than it requires, you develop hemochromatosis. As your body is unable to excrete the excessive iron, it continues to build up, causing damage to the organs where it is stored. One may inherit hemochromatosis or develop it due to some other health conditions.

If you’re preparing for the NEET PG exam, it is essential to understand the concept of hemochromatosis. Keep reading to learn about the symptoms, causes, risk factors, and treatment options of hemochromatosis.

What is Hemochromatosis?

Hemochromatosis, also known as “iron overload,” is a disorder that causes excessive iron buildup in an individual’s body. Usually, iron is absorbed in the right amount from an individual’s food by their intestines. However, individuals diagnosed with hemochromatosis experience excessive absorption of iron in their bodies, without any scope to get rid of it. 

Excessive iron is stored in organs such as the heart, liver, pituitary gland, skin, and pancreas, as well as in the joints, causing damage to these tissues. If left untreated, this can lead to organ failure.

What are the Causes of Hemochromatosis?

The primary cause of hemochromatosis is mutations of the HFE (hemochromatosis) gene. It is a recessive gene disorder that an individual inherits from both parents. Individuals inheriting only one mutated HFE gene are carriers.

Though a carrier does not develop hemochromatosis themselves, they may pass this on to their offspring. Two carriers who conceive have a 50% risk of passing on one mutated HFE gene to their offspring. And there’s a 1 in 4 chance of passing on both faulty HFE genes and getting the disease.

What are the Risk Factors of Hemochromatosis?

Here are some of the factors that may increase an individual’s risk of developing hemochromatosis:

• Family History

If any of your family members, like parents, siblings, children, etc., have hemochromatosis, you can also develop this condition.

• Genetic Factor

The primary cause of hereditary hemochromatosis is having two copies of a defective HFE gene. The individual inherits one copy of the mutant HFE gene from each parent. FE stands for iron, and H for high.

• Gender

Although both males and females can develop hemochromatosis, the condition’s effects are usually less severe in females. This is due to the regular blood loss in females during menstruation, which reduces their iron levels.

What are the Symptoms of Hemochromatosis?

Although some people do not develop any symptoms of hamochromatosis, the early symptoms often overlap with those of common conditions. However, here are some of the symptoms that one may experience:

• Fatigue
• Joint pain
• Diabetes
• Belly pain
• Weakness
• Heart failure
• Impotence
• Liver failure
• Loss of sex drive
• Memory fog
• Grey or bronze skin colour

How to Diagnose Hemochromatosis? 

Hemochromatosis can be tricky to diagnose as its symptoms often resemble those of other medical conditions. For additional assessment, a physician may refer patients to specialists like a cardiologist (a specialist in heart problems) or a hepatologist (a specialist in liver diseases).

A number of tests can help establish the disease, sometimes even before symptoms show, and early detection is crucial. Hemochromatosis is typically diagnosed using the following methods:

• Test for Serum Transferrin Saturation

It aids in calculating the proportion of iron bound to transferrin, a blood protein that transports iron. A score exceeding 45% is regarded as abnormally high and could be a sign of iron excess.

• Test for Serum Ferritin

This test determines how much iron the body has stored. Although it can also be elevated by other illnesses (such as liver disease or inflammation), high ferritin levels can indicate excess iron. For accuracy, ferritin and transferrin saturation tests are typically conducted in tandem.

• Tests of Liver Function

Through the measurement of enzyme levels, liver function tests aid in the evaluation of the liver’s health. Increased enzyme levels could be a sign of iron-related liver injury.

• Genetic Testing

It detects mutations in the HFE gene, most commonly C282Y (Cysteine 282 to Tyrosine) and H63D, which are linked to hereditary hemochromatosis. This helps confirm whether the condition is genetic or not.

• MRI Scan

A specialised MRI (magnetic resonance imaging) can measure iron concentration in the liver and sometimes the heart. This procedure is non-invasive and helpful in assessing iron overload without the need for a biopsy.

• Liver Biopsy (Less Common)

A small sample of liver tissue is examined to measure iron content and directly assess for cirrhosis or fibrosis. It is now used mainly when MRI results are unclear or when doctors suspect advanced liver damage.

Doctors may order these tests if a patient has a family history of hemochromatosis, unexplained fatigue, diabetes, abnormal liver enzymes, joint pain, etc. Conditions like hepatitis C or a history of multiple blood transfusions also lead to hemochromatosis. Detecting the disorder early allows timely treatment to prevent long-term organ damage.

What are the Treatment Options for Hemochromatosis?

The following are the effective treatment methods for hemochromatosis:

• Dietary Changes

Patients are advised to avoid iron supplements, foods high in iron, and excessive vitamin C, as it increases iron absorption. Alcohol should be limited to protect the liver from additional damage.

• Iron Chelation Therapy

This involves medications that bind to excess iron, allowing the body to remove it through urine or stool. It can be taken orally at home or administered via injection by a healthcare provider.

• Therapeutic Phlebotomy

A procedure where blood is drawn using a needle and tube, removing iron-rich red blood cells. It is performed regularly, with follow-up blood tests to monitor and maintain safe iron levels.

• Treating Underlying Causes

If another condition triggers secondary hemochromatosis, such as liver disease or repeated blood transfusions, addressing that illness is essential to prevent further iron overload and reduce complications.

• Managing Complications

Existing organ-related issues, such as diabetes, heart disease, or joint problems caused by hemochromatosis, may require additional treatments to improve quality of life and minimise long-term organ damage.

FAQs about Hemochromatosis

1. What are the different types of hemochromatosis?

Hemochromatosis is of three types. Primary hemochromatosis is genetic; secondary results from other conditions; neonatal is rare, caused by fatal liver injury, differing from adult forms in cause and onset.

2. What are the complications of hemochromatosis?

Hemochromatosis can lead to serious complications due to iron overload in organs, including liver damage or failure, diabetes from pancreatic injury, arthritis, joint pain, heart failure, arrhythmias, skin discolouration, adrenal gland dysfunction, and reproductive problems. Early treatment helps prevent these risks.

3. Can hemochromatosis be prevented?

Hemochromatosis cannot be prevented, but controlling iron levels through early detection and treatment can help manage the condition effectively and significantly reduce the risk of serious complications.

4. What is the prognosis for hemochromatosis?

The prognosis for hemochromatosis depends on early detection and treatment. Without timely care, it can cause severe organ damage and death, but with prompt management, most people can live healthy, everyday lives.

Conclusion

Hemochromatosis is a serious but manageable condition characterised by excessive iron buildup in the body. Early diagnosis and treatment are crucial in preventing organ damage and improving outcomes. Having a deeper understanding of this condition is essential for everyone, especially those aspiring to take the NEET PG exam.

In this regard, DocTutorials offer valuable resources, including detailed medical lectures and question banks, to deepen understanding of hemochromatosis and other medical conditions. 

Utilising such resources can enhance awareness and help NEET PG students stay updated on diagnosis and treatment strategies.

For further assistance, please consider joining our NEET PG course for a better understanding.