Hemochromatosis,What is it?
Hereditary hemochromatosis is a defective single-gene disease which is very common among people in Western populations with one out of about 250 people suffering from it. However, most people have never heard of this disease and most medical professionals do not know much about it. The American Diabetes Association ought to know the condition better as it can damage the pancreas and cause diabetes.
There are many diseases caused by the body having an excessive amount of iron and hereditary hemochromatosis occurs most often. This disease develops due to the mutation of a single gene which results in excessive amounts of iron being absorbed from the digested food and the body’s inability to remove the extra amount. After a certain period, the iron is deposited in the body tissues including the tissues of the heart, the liver and the pancreas. The amount of iron in the organs gradually increases and causes them damage.
If no treatment is forthcoming, these organs can fail and result in heart disease, cirrhosis and diabetes. The amount of iron deposited in the body of most patients gradually increase to such an extent that the skin takes on a bronze or dark gray color. Due to this skin color at the time of diabetes diagnosis, there are times when hemochromatosis has been called “bronze diabetes”.
How common is it?
It is believed that one out of two hundred Americans have both copies of the hemochromatosis gene and approximately 50 percent of these people will finally get complications which put it on the same level of occurrence as type 1 diabetes. It has escaped detection too often, just like type 2 diabetes.
Hemochromatosis/Iron Overload – Video Guide
What are the symptoms?
The following are symptoms which usually happen to men from the age of 30 to 50 and women after the age of 50. Joint pain is the most usual symptom.
- Abdominal pain
- Lack of energy
- Joint pain
- Loss of libido
- Symptoms usually experienced by heart disease patients and diabetics.
How is it diagnosed?
To find out if there is excessive iron deposited in the organs or the body, two blood tests, either a serum ferritin test or a transferring saturation test, can be used. Testing for the gene which has become defective can also be done. Although it is common and simple can be used to detect it, hemochromatosis usually escapes detection, and so, remains untreated. The first signs of the disease are varied and not obvious. They are also similar to many different diseases. Another problem is that doctors may pay more attention on the complications of hemochromatosis which can be diabetes, heart disease, liver disease or arthritis instead of the excessive iron deposits.
What causes it?
When a gene known as HFE, which controls the quantity of iron taken into the body from the food eaten, becomes defective, hemochromatosis occurs.The defective gene can either be inherited from one parent or both parents. A person is said to be homozygous and can suffer from hemochromatosis if he inherits it from both parents. According to studies made, almost everyone who inherits the defective genes from both parents will have too much iron deposits and approximately 50 percent of them will get complications of the disease.A hemochromatosis patient who is heterozygous, meaning that he inherits the defective gene from only one parent, often does not suffer from hemochromatosis even though he has more iron than normal in the body. This person is a carrier.
The Founder Effect: An Interesting Genetic Story
We say that hereditary hemochromatosis is typical of what is known as the “founding effect”, we talk of a disease of the genes which happens due to a mutation in merely one or a very small number of persons. When it comes to hemochromatosis, it is thought that one European, more than 60 generations ago was the origin of almost every case of hemochromatosis on earth. Since it originated from Europe, today’s hemochromatosis is usually seen among Caucasians who are descendants of North Europe.This mutation of the HFE gene was allowed to be passed on and no effort was made to stop it since it did not present any trouble to people of childbearing age. Furthermore, it is possible that those who have a lack of iron can have benefitted from it.
Men versus Women
Both women and men can get hemochromastasis, but it is easier to detect it and its complications in men, and these complications are seen much earlier, when the men are still young. The difference between men and women can be found in women’s childbirth and menstruation. The loss of blood during these two occasions also causes a lot of iron to be lost. So, for those women with hemochromatosis, the loss of blood and iron during menstruation and childbirth is enough to offset the extra iron accumulated. So, no hemochromatosis can be detected until after a period of menopause.
How is it treated?
When it has been diagnosed, phlebotomy or blood letting can be used to treat it.
The fact that women’s hemochromatosis progression is not detected because of the loss of blood during menstruation and childbirth indicates the simple method of blood letting or phlebotomy as a treatment for this disease. Once diagnosed, people suffering from hemochromatosis are given lots of blood letting to lower the levels of iron in their body. A pint of the patient’s blood, once, if not twice, a week for months must be removed from the body. The levels of blood iron are measured and this monitoring has to go on in order to know when a normal range has been achieved. After that, for maintenance, the patient gives a pint of his blood once every two to three months. As long as the iron levels are constantly in the range which is considered normal, hemochromatosis is said to be cured.
So, before any organ is damaged by the disease, it can be claimed that diabetes, arthritis, heart disease and liver disease have been prevented once treatment is started. How good will the health of people who have been diagnosed with hemochromatosis be depends very much on the amount of the damage suffered by the organs. For instance, a normal life can be expected if hemochromatosis treatment is given in the early stages of liver disease as it will stop its progression. But, if cirrhosis has already occurred, the possibility of liver cancer still exists even when iron levels in the body are back to normal. Depending on the amount of damage incurred, diabetes caused by pancreatic damage will have some improvement, possibly an end to diabetes.
Where does the blood go?
The ARC (American Red Cross), with approximately 45% of America’s supply of blood under its control, does not accept blood donations from hemochromatosis patients even though no one has disagreed that the blood is of good quality and safe. Genetic diseases cannot be passed on to another person through blood transfusion. The Red Cross has a policy that blood donors are not to be compensated, except for the cookie and orange juice offered. Since hemochromatosis patients have to pay to have their blood removed, they would indirectly be saving their treatment expenses when they donate blood for free. So they do benefit. Because of this, the Red Cross believes their policy would be violated by this kind of donation.
Hemochromatosis patients are allowed to donate blood, according to FDA regulations. However, there are certain restrictions on the marking of such blood as well as how these blood banks are run. Due to these restrictions, only a small number of blood banks accept blood given by hemochromatosis patients. Much of the blood from therapeutic phlebotomy is thrown away. So, those hemochromatosis patients who want to make a blood donation have to find out if any blood bank in their locality will take their blood. In some countries, such restrictions on hemochromatosis patients’ blood have been lifted. Proposals to remove such restrictions on this blood have been made by the AMA (American Medical Association) as well as other groups.