Hemochromatosis is a condition that causes our body to absorb too much iron from our diet.
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.
There are different causes of hemochromatosis, though the main and most understood cause is hereditary hemochromatosis.
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.
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 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.
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.
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.
It is relatively easy to test for hemochromatosis when it is suspected. Hemochromatosis test include:
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
Treatment of hemochromatosis would involve:
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:
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.
In severe cases of hemochromatosis, you may require a liver transplant.
(hematologist) would let you know if this becomes necessary and would normally liaise
with a liver specialist to have this arranged.
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:
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.