What Is Hereditary hemochromatosis?

Hereditary hemochromatosis(HH) is a medical term used to define various rare genetic disorders that describes the accumulation of iron in multiple organs of the body, such as the liver, heart, and pancreas. 

Hemochromatosis type I, hereditary hemochromatosis, HFE-related hemochromatosis, and classic hereditary hemochromatosis are the most common form of hereditary hemochromatosis.

Hemochromatosis type I is one of the most common genetic disorders in the United States, affecting approximately 1 million population. 

Hereditary hemochromatosis was found to be the most common autosomal recessive disorder in Caucasian populations. In the Northern European countries, the prevalence of hereditary hemochromatosis as high as 1 in 227 individuals in the general community.

About 10 % of the Caucasian population is reported to be suffering from hereditary hemochromatosis. Hereditary hemochromatosis has been noticed mostly in men than in women.

Hereditary hemochromatosis results in too much absorption of iron from the food intake; as a result, these iron gets accumulated in your organs, such as liver, heart, and pancreas. Too much accumulation of iron can lead to life-threatening conditions, such as liver disease, heart problems, and diabetes.

The genes that are responsible for the development of hemochromatosis are usually inherited from the parents which appear in midlife through the signs and symptoms of hereditary hemochromatosis.

The hereditary hemochromatosis treatment involves regularly removing the blood from the body. As most of the iron content is present in red blood cells, extracting blood can reduce the iron content in the body.

Hereditary hemochromatosis can be categorized into two conditions:-

Primary hemochromatosis: It is a condition of hereditary hemochromatosis in which the disorder runs in the family. If a person receives one chromosome causing hereditary hemochromatosis from the mother and one chromosome from the father, the risk of developing the disorder increases.

Secondary hemochromatosis: It is the other ways of developing hereditary hemochromatosis, such as through:-

  • Certain kinds of anaemia
  • Liver disease
  • Frequent blood transfusions

It has been noticed that people living in Northern European descent are more likely to get hereditary hemochromatosis, especially in men that are 5 times more likely to develop the disorder than women.

Hereditary Hemochromatosis Symptoms

Some people suffering from hereditary hemochromatosis doesn’t show early signs and symptoms because they often overlap with other common conditions. Usually, half of the people having hereditary hemochromatosis don’t notice any symptoms. 

After some point of time, when the symptoms tend to show up between ages 30 to 50 and in the case of women, they often show signs until they are over 50 or past menopause. This can be because they lose the iron content becomes less after periods or after giving birth.

Hereditary hemochromatosis symptoms are as follows:-

  • Pain in joints, especially in your knuckles
  • Tired feeling
  • Unexplained weight loss
  • Skin turning into bronze or gray color
  • Pain in your belly
  • Loss of sex drive
  • Body hair loss
  • Weak memory
  • Heart flutter

In some cases, people don’t get any symptoms until the disorder gets severe, that includes other severe symptoms, such as:-

If you are suffering from hereditary hemochromatosis, consult your doctor regarding vitamin C intake because consuming a lot of vitamin C can make hereditary hemochromatosis worse as vitamin C helps your body to absorb iron from the food intake.

How To Diagnose Hereditary Hemochromatosis?

The doctors find the hereditary hemochromatosis diagnosis a difficult task because the symptoms are almost similar to other conditions and therefore the doctor might ask you to go through specific tests if:-

  • You are experiencing symptoms
  • You have problems as listed below
  • Your family member has the disorder

There are some other ways through which your doctor can figure out about the presence of hereditary hemochromatoses, such as:-

History of the person: Since the hereditary hemochromatoses is a genetic disorder, therefore, the doctor needs to know about their family and medical history. There could be a chance that any of your family members would be having hereditary hemochromatosis.

  • Physical Analysis: The doctor may need to examine your physic as well through a stethoscope to get an idea about what’s going on inside the body. He may also analyze other different parts of your body.
  • Blood Tests: Two tests can help diagnose hereditary hemochromatosis, that is as follows:-
  • Transferrin saturation: Transferrin is a type of protein that is responsible for carrying iron in the blood. A test can be asked to perform to get an idea about how much iron is stuck to transferrin.
  • Serum ferritin: It is a test to examine the amount of ferritin in your blood. Ferritin is a protein that stores iron in the blood.

These tests as mentioned early are performed to know the iron content in the blood. If the iron content found to be higher than the required, your doctor may ask you to undergo the third test to be sure about the presence of genes causing hemochromatosis.

  • Liver Biopsy: It is a test in which the doctor will take a sample of the liver to diagnose it under a microscope to see if there is any liver damage. 
  • MRI: It is a test that involves the scanning of organs with the help of magnets and radio waves to get a clear picture of the organ scanned.

Hereditary Hemochromatoses Treatment

Hereditary hemochromatoses testing is categorized into two categories, and the treatment is based on the type of the disorder. If the doctor finds that your disorder falls in the category of primary hemochromatosis, he will try to treat you by removing blood from your body. 

Such treatment is similar to donating blood. The doctor will insert a needle into the vein in your arms or legs, and blood will flow through the needle into a bag.

The purpose of choosing this treatment is to reduce the iron content that is present in your blood to an ideal level. Treating the disorder with such treatment can take up to one year or more. Such type of treatment is divided into two categories: initial treatment and maintenance treatment.

  • Initial treatment: The person receiving such therapy will have to visit the doctor’s clinic or hospital once or twice in a week to remove your blood.
  • Maintenance treatment: After reducing the iron content in the blood content, it is essential to maintain the iron level in the blood as well. Therefore, to maintain the iron content, you need to remove the blood, but not as often during the initial treatment. The duration of removing the blood to retain the content iron depends on the time interval in which the iron builds back up in your body.

Complications Related To Hereditary Hemochromatosis

Hemochromatosis is a disorder if left untreated can result in severe complications such as:-

  • Enlarged liver
  • Liver cirrhosis
  • Liver cancer
  • Arthritis
  • Liver failure
  • Osteoporosis
  • Diabetes
  • Irregular heartbeat
  • Enlarged heart
  • Impotence
  • Congestive heart failure
  • Early menopause
  • Hypothyroidism
  • Damage to adrenal glands
  • Enlarged spleen

Hereditary Hemochromatosis Preventive Measures?

Since hereditary hemochromatosis is a genetic disorder, it cannot be prevented as it gets carried by the genes. But, there are things we can do to avoid it, you can be screen at an early stage of the hemochromatosis gene defect. This is the way of treating such a disorder before they affect other body organs.


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