The Overload of Iron: Understanding Hemochromatosis

By: Nishita Kulkarni

From MCR’s Washington Chapter

From Unsplash

I. Introduction

Hemochromatosis is a genetic condition that causes excessive iron absorption in the body, leading to iron buildup in organs such as the heart, liver, and pancreas. This buildup can be harmful and cause organ damage over time. Potential complications of Hemochromatosis include liver disease, heart problems, diabetes, and joint pain. In severe cases, organ damage and failure can occur.

II. Causes of Hemochromatosis

Genetic factors, such as mutations in the HFE gene, usually cause Hemochromatosis. The mutation leads to the overabsorption of iron in the intestines.

Another possible cause of this disorder would be repeated blood transfusions since this repetition of transfusions can lead to more iron in the body, contributing to the possibility of obtaining the disorder.

III. Symptoms of Hemochromatosis

Early signs of Hemochromatosis are:

• Fatigue (usually often)

• Mental haze

• Weight Loss

• Pain in joints

• Period irregularity

Later signs of Hemochromatosis are:

• Permentally tanned (usually for those with lighter skin shades)

• Stomach pain + swelling

• Painful breathing and chest

• Feeling the need to drink water all the time

• Yellow pigmentation of the skin

• Irregular heartbeat

IV. Diagnosis of Hemochromatosis

To analyze for the disease, the individual experiencing symptoms usually undergo blood tests for the health professional to check their iron levels. Genetic testing is another way to see if the individual is suffering from Hemochromatosis; this looks for specific mutations seen in the condition.

However, if you feel that you might be experiencing Hemochromatosis, it is crucial to discuss your concern with your physician for an accurate diagnosis and further precautions/treatment.

V. Treatment of Hemochromatosis

A typical treatment style for Hemochromatosis is Phlebotomy. In this treatment, your doctor withdraws blood from the body (around 1 pint); this withdrawal continues until the patient's iron level returns to normal. After one's iron level stays around a normal range, the patient must continue Phlebotomy to ensure there isn't a drastic increase in one's iron levels.

VI. Complications of Hemochromatosis

Sadly, Hemochromatosis can lead to organ damage due to the over buildup of iron in the body. When the body absorbs too much iron, it stores it in organs like the heart, liver, and pancreas. This iron overload can damage these organs by impairing their tissues.

Hemochromatosis can also cause other issues to occur in the body due to the excessive iron buildup; topics such as liver failure, heart conditions, and diabetes are common in one affected by the disease.

VII. Conclusion

In conclusion, Hemochromatosis is a severe genetic disease that can lead to significant organ damage if untreated. It's crucial for individuals encountering symptoms of Hemochromatosis to seek medical attention and undergo the necessary blood and genetic tests for proper diagnosis. The treatment typically involves Plebotomy to reduce excessive iron levels in the body. Early diagnosis and management of Hemochromatosis can help prevent complications and improve the quality of life for many affected by this disease.

MCR committee: Genetics

Works Cited

"Diagnosis of Hemochromatosis | NIDDK." National Institute of Diabetes and Digestive and Kidney Diseases, Jan. 2020, www.niddk.nih.gov/health-information/liver-disease/hemochromatosis/diagnosis.

"Hemochromatosis - Symptoms and Causes." Mayo Clinic, www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443#:~:text=A%20gene%20called%20HFE%20is.

"Hemochromatosis Treatment." Www.hopkinsmedicine.org, www.hopkinsmedicine.org/health/conditions-and-diseases/hemochromatosis/hemochromatosis-treatment.

NHS. "Haemochromatosis - Symptoms." Nhs.uk, 3 Oct. 2018, www.nhs.uk/conditions/haemochromatosis/symptoms/.