Understanding Hereditary Hemochromatosis

A set of inherited disorders known as hereditary hemochromatosis results in excessive iron absorption in the body. Usually, blood transfusions are used to treat them to lower iron levels.

Hemochromatosis patients may experience excessive iron accumulation in organs including their:
  • skin
  • heart
  • pituitary gland
  • joints
  • pancreas
  • liver
Iron accumulation in these organs can cause several dangerous problems, including heart problems and liver damage. Many of these issues are preventable if treated promptly and consistently.

Continue reading to find out more about hereditary hemochromatosis, including its signs and symptoms, available treatments, and prognosis.

What are the different types of hereditary hemochromatosis?

Physicians categorise four forms of hereditary hemochromatosis:
  • Type I (classic): Mutations in the HFE gene result in the recessive disorder known as type I hereditary hemochromatosis. For men, symptoms often start between 40 and 60, and for women, they start after menopause.
  • Type II (juvenile): The majority of cases of juvenile hereditary hemochromatosis appear before the age of thirty. It is a recessive disorder brought on by changes to the HAMP or HJV genes.
  • Type III (TFR2-related): Mutations in the TFR2 gene result in the recessive disorder known as TFR2-related hereditary hemochromatosis. Most individuals start having symptoms in their 20s.
  • Type IV (ferroportin disease): A dominant condition brought on by mutations in the SLC40A1 gene is ferroportin disease. Individuals are often diagnosed in their middle years, with women typically exhibiting symptoms approximately ten years later than men.

What distinguishes hemochromatosis as primary from secondary?

The genes that cause primary hemochromatosis are inherited from your parents. There is another known underlying cause of secondary hemochromatosis, which could be excessive iron consumption in the diet or repeated blood transfusions.

Secondary hemochromatosis is most frequently caused by repeated blood transfusions used to treat severe forms of anaemia, such as:
  • sickle cell disease
  • sideroblastic anemia
  • thalassemia

What are the symptoms of hereditary hemochromatosis?

Most hereditary hemochromatosis sufferers never experience any symptoms. If symptoms do manifest, the following are listed by the Centres for Disease Control and Prevention (CDC):
  • fatigue
  • weakness
  • bronze or grey skin colour
  • abdominal pain
  • loss of sex drive
  • joint pain
  • unintentional weight loss
Women often experience symptoms later than men, and symptoms usually appear after the age of 40. Hemochromatosis in juveniles typically manifests before the age of thirty.

Hereditary hemochromatosis can result in issues like these if it is not treated:
  • Of those with hemochromatosis, 70% develop cirrhosis.
  • liver cancer
  • heart conditions
  • arthritis
  • diabetes

What causes hereditary hemochromatosis and who’s at risk?

Genes inherited from your parents cause hereditary hemochromatosis. Recessive gene mutations cause type I–III hereditary hemochromatosis, which means that to get the condition, you must inherit a related gene from both parents.

Because ferroportin sickness is caused by a dominant gene mutation, it can manifest even if only one parent carries the mutation.

The majority of non-Hispanic White people in the US are more susceptible to inherited hemochromatosis. Their chances of getting it are roughly 1 in 300.

Men with hereditary hemochromatosis are more likely than women to experience problems, and they frequently do so at a younger age, according to the CDC.

How is hereditary hemochromatosis diagnosed?

Typically, physicians begin the diagnostic procedure by:
  • examining your medical history, both personally and familially
  • enquiring about your symptoms
  • conducting a physical assessment, during which they will search for:
  1. soreness in your stomach
  2. alterations to the colour of your skin
  3. sensitivity or oedema in your joints
  4. expansion of the spleen or liver
Your doctor may request blood tests to measure your: if they think you could have hemochromatosis.
  • levels of iron
  • liver function
  • fasting blood sugar
  • amounts of ferritin, the protein in your liver that stores iron.
  • ratio of iron to transferrin
  • levels of transferrin, the protein in your blood that carries iron.
A blood test is another tool that doctors can use to check for gene changes linked to hereditary hemochromatosis.

In certain situations, a liver biopsy may be required to rule out other liver diseases and establish that you have an excess of iron in your body.

How is hereditary hemochromatosis treated?

Iron can accumulate in your organs and cause irreversible harm if left untreated.

Phlebotomy is the primary treatment for hereditary hemochromatosis, which lowers iron levels in the body. The medical word for drawing blood is phlebotomy. Typically, physicians advise beginning with a pint of blood extracted once or twice a week for a few months.

You can cut back on how frequently you have transfusions as your iron levels rise. Eventually, you might be able to cut them down to two or three times a year.

Sometimes erythropoietin is taken in addition to phlebotomy to promote the creation of new red blood cells.

For those who are unable to have phlebotomy, chelating agents are a type of medication that can be given; however, they are not as effective.

If you suffer damage to any organs, you might require further care. People with end-stage liver illness, for instance, might think about getting a liver transplant.

What’s the outlook for someone with hereditary hemochromatosis?

Complications and death from hereditary hemochromatosis are rare if the condition is properly managed. Those who have previously suffered significant organ damage typically don't survive longer than two years. Thirty percent of deaths are related to liver cancer.

Increased liver scarring is the primary factor associated with a worse prognosis.

There are a few ways you could stop organ damage:
  • To lessen damage to the liver and pancreas, alcohol must be rigorously avoided.
  • taking precautions against diseases, such as getting vaccinated and avoiding raw fish and shellfish
  • Steer clear of drugs and substances that damage the liver.
  • getting routine blood tests for tumour markers and liver ultrasounds
  • getting routine blood tests to monitor your levels of ferritin (iron storage)


An accumulation of iron in the body is a genetic disorder known as hereditary hemochromatosis. To prevent organ damage, it's critical to get a diagnosis and treatment as soon as feasible.

Many persons with hemochromatosis can lead normal lives without significant complications if the condition is well-managed. Without assistance, people typically have a negative perspective.


Does hereditary hemochromatosis go away?

There's currently no cure for haemochromatosis

How can I remove excess iron from my body naturally?

Blood loss

What should I eat if my iron is too high?

Fresh produce, plant-based proteins, fish, lean poultry, and low-fat dairy

Can you reverse liver damage from hemochromatosis?

Rarely reversible

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