Tuesday, February 10, 2009

What are the symptoms of hemochromatosis?

The most common complaint of hemochromatosis patients is joint pain. Other symptoms that commonly occur are:
- fatigue
- a lack of energy
- abdominal pain
- loss of sex drive
- heart problems

However, since quite often the disease is detected by coincidence, many people have no symptoms when they are diagnosed.

If the disease is not diagnosed and treated early enough, the excessive iron will accumulate in the body and will lead to serious problems such as

- arthritis
- liver disease (enlarged liver, cirrhosis, cancer, liver failure)
- damage to the pancreas
- diabetes
- heart abnormalities (irregular heart rhythms, congestive heart failure)
- impotence
- early menopause
- abnormal pigmentation of the skin (gray or bronze)
- thyroid deficiency
- damage to the adrenal glands

Tuesday, February 3, 2009

What is Hemochromatosis anyway?

This is how Wikipedia describes it:

Haemochromatosis, also spelled hemochromatosis, also called hereditary haemochromatosis, siderophilia and bronze diabetes, is a hereditary disease characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. Humans, like virtually all animals, have no means to excrete excess iron. Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, the heart and the pancreas; patients can present with cirrhosis, adrenal insufficiency, heart failure or diabetes. The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of British or Irish descent.

Haemochromatosis less often refers to the condition of iron overload as a consequence of multiple transfusions. More preferred terms in the United States include for transfusional iron overload or hemosiderosis used synonymously. Those with hereditary anemias such as beta-thalassemia major, sickle cell anemia, and Diamond-Blackfan anemia who require regular transfusions of red blood cells are all at risk for developing life-threatening iron overload. Older patients with various forms of bone marrow failure such as with myelodysplastic syndrome who become transfusion-dependent are also at risk for iron overload.

Thursday, January 17, 2008

Do you have too much iron in your blood?

You'd probably be surprised if you found out that you do. Most people suffer from an Iron deficiency, however, some people suffer from an Iron Overload instead. This disease is called Hemochromatosis. There are several forms of Hemochromatosis, but the most common is the hereditary form. This means that you inhereted it from both your parents. This also means that you should think some things over when you are thinking of having children of your own. Do you want to take the risk of them having the same disease as you do? Meaning they will have to have life long treatment in the form of phlebotomies? Since you know you have Hemochromatosis, it is rather easy to find out if there is a chance that your children will have it. Just let your partner's DNA be tested for Hemochromatosis, if he/she is clean, there is no chance that your children will have the disease, if he/she is a carrier, there is a chance that your children will get the disease (one needs to have the dna defect from both parents, before the disease develops, otherwise you are just a carrier), if both you and your partner have Hemochromatosis, your child will also have the disease. This does not have to be a problem though. Since you know from the birth, or short after, that your child will develop Hemochromatosis, you act on it, keeping an eye on the ironlevels, and start treatment before any damage is done...

Damage you say? From too much iron?
Yes indeed, too much iron kills you eventually... The overload of iron, which your body cannot use, will remain in your blood. This can only happen as long as your blood still can carry this. When the blood is saturated, the iron will be stocked in different places, such as the joints, the glands, the brains, the liver, ...
It needs no explanation that this is very bad for your organs, and it will lead to death eventually.
Luckily, there is a solution: phlebotomy. With this treatment, the medics take an amount of blood from your body at regular intervals, for me, at this moment, this is 0,5 litres every 2 months. This causes the amount of iron in your body to lower, due to it being removed, and again when your body is creating new blood, since it needs alot of iron to do that.
If your phlebotomy treatment can start before too much damage is done to your organs, your chances of living a normal and long life are still pretty normal.