Hemochromatosis

What Is Hemochromatosis?

Hemochromatosis is a condition that causes our body to absorb too much iron from our diet.

Hemochromatosis: This is a condition that leads to overload of iron in our body from excessive intestinal absorption of iron from our diet.A certain amount of iron is required for healthy blood level.

We need a daily amount of iron to build our blood and many other body functions in order to remain in good health.

Like anything in life, too much iron in our body is detrimental to our health.

When excessive iron is deposited into our organs, especially into the liver, pancreas, heart, joints, testicles or ovaries and pituitary.

Just like iron mixed with water and oxygen lead to rust, our liver or other organs can literally start to rust causing damage to these organs.

It is very important therefore to make a diagnosis of this condition in good time.

Causes of Hemochromatosis

There are different causes of hemochromatosis, though the main and most understood cause is hereditary hemochromatosis.

Hereditary Hemochromatosis

Hereditary hemochromatosis: Defect on Chromosome 6.Hereditary hemochromatosis: Defect on Chromosome 6.

Though 9 out of 10 cases of hemochromatosis is caused by a genetic disorder known as hereditary hemochromatosis (abbreviated HHC or HH in some places), there are other situations that can also lead to this disease.

As you are aware, we all have one pair of 23 chromosomes. On chromosome 6, a change in the structure on its short arm where we have what is referred to as the HFE gene leads to a reduction in the production of a chemical known as hepcidin.

Hepcidin helps the body to regulate the amount of iron that is absorbed from our food by the cells lining the inner wall of our intestines. When there is a low level of hepcidin, we tend to absorb 2 to 4 times more iron from food than normal.

This iron is then transferred to our liver, heart, pancreas, testicles or ovaries, joints, pituitary gland and stored. Overtime, the level accumulates and cause damage to the organs.

Hereditary hemochromatosis is usually inherited as an autosomal recessive gene. This means that you have to inherit the condition from both parents to have it manifest in you. So one or both of your parents may just carry half of the gene and not have this condition. It could skip generations too.

If you have been diagnosed with HHC, it is important that you let your family members know (your siblings and parents) and ask them to see their doctor or healthcare provider to get tested, to avoid serious complications if they are diagnosed in time.

African Iron Overload

This is a condition where certain African tribes have been noted to suffer with iron overload because of cooking in iron pots or drinking beer brewed in iron receptacles. 

As would be expected, it is rare to find this as a cause of hemochromatosis in western societies where iron pots are almost never used.

Recent studies have indicated that there could also be some genetic disorder associated with this form of hemochromatosis.

Juvenile Hemochromatosis

Juvenile hemochromatosis is a condition that is seen sometimes (very rare) in teenagers and young adults where they have iron overload but do not test positive for a mutation in the HFE gene found on chromosome 6.

Though the cause is actually unknown, it is suspected to be due to a possible defect in a gene on chromosome 1.

Symptoms of Hemochromatosis

Most people with hemochromatosis are often diagnosed from routine blood test before they actually develop symptoms.

However, the symptoms of hemochromatosis are often blamed on other diseases and usually manifest after age 40.

They include:

  • Weakness, Fatigue and Lethargy
  • Joint pain – your large joints and especially the second and third fingers at the point where they connect to the hand (2nd and 3rd metacarpophalangeal joints)
  • Excessive thirst
  • Reduce sex drive or libido in both sexes
  • Difficulty in initiating and maintaining erection in men (impotence)
  • Memory problems
  • Mood swings
  • Becoming easily irritable
  • Depression
  • Vague abdominal pain – usually in the right upper abdomen
  • Darkening of the skin (bronzing)
  • Heart problems
  • Diabetes
  • Liver damage – this could manifest as an abnormal liver blood test or presence of slight jaundice. Hemochromatosis can lead to liver cancer in severe cases.
  • Thyroid problems
  • Irregular or absence of normal menstruation in a woman of childbearing age.

If you are 40 or more years old and suffer with one or more of these symptoms, or have a family member that is known with hemochromatosis, then it is best you get checked for this condition.

Diagnosis of Hemochromatosis

Genetic testing is required to confirm the presence of hereditary hemochromatosis.Genetic testing is required to confirm the presence of hereditary hemochromatosis.

It is relatively easy to test for hemochromatosis when it is suspected. Hemochromatosis test include:

  • Serum Ferritin Level. Ferritin is good reflection of the amount of iron that is available to the body. It is iron bounded to a protein and this is how iron is stored. A high level of serum ferritin above 400 micrograms per liter (this upper limit could be lower or slightly higher depending on the local laboratory values) indicates the presence of iron overload. 
  • Transferrin saturation. This is the sum of the serum iron level and the Total Iron Binding Capacity (also referred to as TIBC). A number greater than 45 percent is indicative of the presence of hemochromatosis.
  • Genetic testing. HFE genetic testing for the C282Y and H63D genes on chromosome 6, where positive confirms without doubt, the presence of hereditary hemochromatosis.
  • Liver Biopsy. If your ferritin level is 1000 or more, then you would require a biopsy of your liver to determine the degree of injury to your liver and help plan how aggressive your treatment should be.

If you had a routine blood test and were found to have high levels of ferritin or transferrin saturation, you still require genetic testing to confirm the diagnosis of hereditary hemochromatosis.

Treatment of Hemochromatosis

Treatment of hemochromatosis would involve:

Further testing

Once a diagnosis of Hemochromatosis is made, if the patient should be tested for the possibility of complications of this condition.

Your doctor would send you for test for:

  • Diabetes,
  • Hepatitis A, B and C
  • Thyroid test
  • ECG
  • Echocardiogram
  • Testosterone level
  • Osteoporosis.

Phlebotomy or Bloodletting

Phlebotomy in progress.Phlebotomy in progress. You may be connected to a blood bag to collect about 250 to 500 ml of blood off you. Avoid physical activity for 24 hours and drink plenty of water after the procedure.

If you have Ferritin levels greater than 1000, you would require treatment for this condition. At such a high level, organ damage is almost certain to creep in.  Some hematologist would even start treating you from a ferritin level greater than 700.

If you suffer with unexplained fatigue and your ferritin level is greater than 300, you may benefit from iron reducing treatment. Speak with your doctor.

The main treatment for hemochromatosis is to have the excessive iron removed from your body by removing about 250 to 500 ml of blood from your vein in the clinic or hospital, a process known as phlebotomy.

This amount of blood is removed under supervision once every week or two for about 12 months. You must make sure you drink plenty of water and have good rest after you have blood taken from you.

Liver Transplant

In severe cases of hemochromatosis, you may require a liver transplant.

Your specialist (hematologist) would let you know if this becomes necessary and would normally liaise with a liver specialist to have this arranged.

Preventive Measures

If you have been diagnosed with hemochromatosis, or have a close family member with this condition, you can take the following measures to prevent yourself from coming down with severe iron overload:

  • Avoid taking multivitamins or supplements with iron in them
  • Avoid alcohol in large amount. Alcohol consumption has been found to increase your likelihood of worsening your liver if you have this condition faster than if you did not have it.

In summary, hemochromatosis is a condition that can cause a wide range of complications and damage to our organs if not diagnosed in good time.

If you are suspected to have this condition, take it seriously and let your siblings and parents know and get tested. With available treatment, the complications can be minimized.

If you have any questions on this this topic, please post them below.

References: 

  1. Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54:328.
  2. Barton JC. Hemochromatosis and iron overload: from bench to clinic. Am J Med Sci. 2013;346(5):403-412.

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