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Hemochromatosis: Everything You Need to Look Out For

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Hemochromatosis: Everything You Need to Look Out For

Paediatrics | by Dr. Saugata Acharya | Published on 21/06/2023



Introduction

Have you been experiencing heart issues, fatigue, and weakness? If yes, then you might get tested for hemochromatosis. It is a genetic disorder determined by the massive absorption of iron from the diet, causing a dangerous accumulation of iron in the tissues and organs of the body. While iron is an important component for several bodily functions, iron levels that are excessive can prove to be toxic and lead to various health complications. If you suspect that you might be suffering from hemochromatosis, then you must consult The Calcutta Medical Research Institute in Kolkata, one of the best multispeciality hospitals offering the most exceptional and amazing patient care including healthcare services. 

 In this blog, we will dive deep into the complexities of hemochromatosis, which also includes its causes, symptoms, diagnosis, and treatment options.

Kindly understand that the write-up is for informative purposes only and doesn’t interfere with consultation of a healthcare professional.

Understanding Hemochromatosis

Hemochromatosis is mainly an inherited condition which occurs due to particular mutations in the genes accountable for iron regulation absorption. One of the most common forms of hemochromatosis is referred to as hereditary hemochromatosis with HFE gene mutations which is one of the main culprits. These mutations lead to disrupting the body’s efficiency of controlling iron absorption and eventually causes excessive iron buildup. 

What are hemochromatosis symptoms?

Initially, it is difficult to observe any hemochromatosis symptoms and this is one main reason that this disorder is also known as silent killer. As iron begins to pileup over time, it can lead to affecting several organs causing a range of symptoms. Some of the most common signs and symptoms of hemochromatosis are:

  • Abdominal pain and swelling
  • Loss of libido and impotence
  • Joint pain and stiffness
  • Liver diseases (e.g., cirrhosis)
  • Skin discoloration 
  • Heart problems
  • Fatigue and weakness
  • Diabetes

What are hemochromatosis causes?

While hereditary factors play an important role in hemochromatosis development, there are some medical and environmental factors as well which can contribute to overload of iron. Here are these factors: 

  • Blood transfusions: When there is repeated transfusions of blood, specifically in people with some type of anaemia can cause iron buildup in the body. 
  • Excessive dietary iron intake: People who consume iron in large quantities or supplements can experience iron overload with a predisposition to the condition.
  • Liver disease: Liver diseases like alcoholic liver disease, viral hepatitis, and nonalcoholic steatohepatitis (NASH), leads to disturbing the regulation of iron and causes hemochromatosis.
  • Iron-loading anemias: There are types of anaemia like thalassemia and sideroblastic anaemia which result in the iron accumulation and excessive absorption of iron. 
  • Rare conditions: Different rare conditions are there causing secondary hemochromatosis which includes neonatal hemochromatosis and others.

How is hemochromatosis diagnosed?

Hemochromatosis diagnosis is crucial for averting serious complications. The doctor initiates the test with a combination of medical history evaluation, physical examinations, and laboratory tests which assists in condition diagnosis efficiently. Blood tests like serum iron, transferrin saturation, and serum ferritin levels offer useful information of iron levels in the body. Genetic testing also helps in identifying particular mutations linked to hereditary hemochromatosis.

What are the options for hemochromatosis treatment?

The main emphasis of hemochromatosis treatment is reducing iron levels in the body and managing linked complications. One of the common methods used for treatment is therapeutic phlebotomy. It is a process similar to blood donation, in which blood is regularly removed to lessen iron stores. This procedure continues till the time iron levels are back to normal. Frequent phlebotomies might be required initially, followed by maintenance therapy.

In addition, dietary changes play an important role to manage hemochromatosis. People with the disorder are recommended to restrict their iron intake, averting iron supplements, and foods high in iron content. Frequent monitoring of iron levels and overall health is vital to identify any complications to ensure timely and effective management.

How is it like living with hemochromatosis?

It is not very easy living with a chronic condition like hemochromatosis. It is important for people with the disorder to seek timely support from healthcare experts, support groups, and online communities. It is also very critical to raise awareness about hemochromatosis among both the general public and medical professionals to enhance early diagnosis rates and avert severe complications.

Conclusion

Understanding the causes, symptoms, diagnosis, and treatment options for hemochromatosis is essential for early diagnosis and efficient management. If you or your loved ones are experiencing any symptoms linked to hemochromatosis or iron overload, it is advisable to consult a healthcare professional like The Calcutta Medical Research Institute for further evaluation. With right diagnosis and timely medical intervention, people with hemochromatosis can lead healthy lives and avert issues linked to excessive iron buildup.