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Inherited Liver Diseases- Are You at Risk of Hemochromatosis?

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When we talk about inherited liver diseases, the two names that occupy attention in an instance are Hemochromatosis and Alpha-1 Antitrypsin Deficiency. The former is a condition where the liver faces an iron overload.


The latter denotes the complete lack or lower amounts of an essential protein in the blood and an excessive deposit of the same in the liver.

The Connection between a Genetic Mutation and a Fatal Condition

Human bodies have the HFE gene to control the amounts of iron that the body absorbs from its daily diet. Mutations in this HFE gene results in Type 1 or Classic Hemochromatosis.

An average human absorbs about eight to ten percent of iron from food. If the same person suffers from HHC, he or she could engage as much as four times the usual Fe amount. Now that their body has too much iron, (and not so conveniently, the human body lacks a supreme mechanism that could get rid of unnecessary iron) it starts building up in the main organs including the liver.

The liver will first become diseased because of the iron overload. Over time and without proper treatment, fatality is possible.

Hemochromatosis- the Most Occurring Genetic Liver Disease in the US, Occasional in India

There is no absolute need to panic if you are an American. There also is no need to lay back on your couch exhaling a breath of relief if you are an Indian.

If we go by the statistics and studies, it appears that about 1 in 200-300 people in the USA could inherit an iron overload tendency. In India, the chances are lower and infrequent.

And yet, if you were to fall in the category that develops Hemochromatosis, rare or not, you won’t be the only one at the risk of a severe case of liver disease. It means that your parents, children, and siblings are equally in danger and need to be checked out.

Primary Hemochromatosis Spells Trouble; Secondary Does Not

Remember a second ago when we talked about this liver disease being a very frequent one in the USA- that was primary hemochromatosis. The secondary form of this condition isn’t genetic. Secondary hemochromatosis develops because of diseases like thalassemia.

Hemochromatosis Symptoms

The most common sign of an iron overdose could be any liver disease or liver infection signatures. Other symptoms include fatigue, pain in body joints, weight loss for no reason, bronzing (skin darkening), pain in the abdomen, and a loss of libido.

Also, HHC could cause other diseases like diabetes, cancer of the liver, cirrhosis, infertility, testicular atrophy, depression, arthritis, and heart diseases or unanticipated heart attacks.

Diagnosing HHC and Major Treatments for This Liver Disease

A blood test is a primary diagnosis. If the doctors identify excess iron in the blood, they are most likely to order a hemochromatosis DNA test. The patient and their biological family are screened to determine factors affecting the case.

The treatment revolves around removing the extra iron from the body. Phlebotomy or Chelation therapy is adopted.

Phlebotomy continues for two to three years. Every week in this time duration, about half to one litre of the blood is drained from the patient’s body, thus reducing the iron buildup. Chelation uses oral or injected medicine to achieve the same goal as phlebotomy.

It Is Imperative to Stay Healthy

Avoiding food that is rich in iron, alcohol, taking medications on time and never missing the appointments with doctors or healthcare officers are the things that you (if you ever become a patient, although we hope otherwise) should follow with an almost military discipline.

Remember here- hemochromatosis has the power to turn from an inherited liver disease into a fatal one. It could cause cirrhosis, and cancer of the liver is not checked on time. So do your bit.

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