What is Hereditary Hemochromatosis?

Hereditary Hemochromatosis

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A lot of health disorders and conditions have a genetic origin. Hereditary hemochromatosis is one among them, and is more commonly observed in Caucasians, particularly among men.

 

Let’s take a closer look and understand more about this condition.

What Is Hereditary Hemochromatosis?

Hereditary hemochromatosis is a condition that causes the body to absorb too much iron from the food. This excess of iron gets stored in different organs of the body, including the liver, the pancreas and the heart, which can prove to be toxic.

If untreated for long, it may lead to the development of certain life threatening health conditions such as cancer, liver cirrhosis and arrhythmias.

Causes:

Hereditary hemochromatosis is thought to affect one in every 200. It is a genetic disorder that occurs due to a mutation in the gene that regulates the absorption of iron in the body. There do exist certain healthy carriers of this gene who don’t experience any symptoms themselves, but may pass on the gene to their offspring.

This condition is prevalent in a child who has received a mutated gene from both the parents. Inheriting a single mutated gene may not be harmful in a majority of cases, since the normal gene from one parent will cancel out the effect of the mutated gene. However, in certain cases, inheriting just a single mutated gene may also lead to iron overload.

In a lot of cases, a child who is affected by this condition may not experience any signs and symptoms, and may not be severely affected.

Signs and Symptoms:

The signs and symptoms associated with hereditary hemochromatosis usually appear at around 40 years of age. Some common symptoms include:

  • Enlarged liver
  • Chronic fatigue
  • Premature menopause
  • Increased susceptibility to bacterial infections
  • Shrinkage of testicles
  • Loss of libido
  • Heart failure
  • Impotence
  • Liver cancer
  • Muscle and joint pain
  • Loss of body hair
  • Diarrhoea
  • Heart problems
  • Diabetes
  • Depression, disorientation and memory problems.
  • Grayness of the skin.

It has also been found that many individuals affected by this condition do not experience any symptoms throughout their lifetime, which makes diagnosis difficult. These symptoms are also often misdiagnosed for conditions like Alzheimer’s disease, iron deficiency, chronic hepatitis and gallbladder disease.

Treatment and Cure:

The damage occurring due to hereditary hemochromatosis can actually be prevented if the condition is diagnosed and treated early. Blood tests that measure iron content can usually diagnose hemochromatosis. Common treatment options include:

  • Individuals with hereditary hemochromatosis have to be treated regularly using a process known as phlebotomy, where blood is drawn from the body regularly.
  • The blood is drawn from the patient’s body weekly until the level of iron reaches back to normal.
  • This process is similar to blood donation, and may need to be carried on for the entire lifetime.
  • For some individuals, 2 to 3 years of periodic phlebotomy may be needed to deal with the excess iron levels in blood.

Complications:

  • Excess of iron in the body over a period of time is thought to raise the risk of several health conditions including the following.
  • Heart problems including arrhythmias, heart palpitations, chest pain, congestive heart failure, etc.
  • Erectile dysfunction, loss of sex drive.
  • Diabetes and other pancreatic problems.
  • Liver cirrhosis, liver cancer and liver diseases.
  • Absence of menstrual cycle in women.
  • Deposition of iron in the skin cells, which makes the skin appear bronze or gray in color.

If you or anybody you know has this condition, you may be assured that treatment has a high success rate, if given at the right time. Early diagnosis and treatment may help tackle the symptoms and complications of hereditary hemochromatosis, and the patient may be able to lead a normal life.

Don’t forget to share your HC experiences with us.

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