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Mediterranean anemia (beta thalassemia) symptoms in a nutshell:

Lack of endurance, and the tendency to get light-headed during sustained aerobic workouts. Blood tests commonly miss the correct diagnosis of beta thalassemia, and instead misdiagnose it as iron deficiency anemia.

Athletically, someone with beta thalassemia can succeed in activities that include a lot of stopping and starting, such as tennis, volleyball or baseball. They would, however, have a very difficult time succeeding in constant-output activities, such as distance running or wrestling.

From (now defunct) thriveonline.com:

Thalessemia is actually a collection of congenital disorders in which parts of the protein chains that make up hemoglobin are changed. Hemoglobin is a crucial compound in our red cells that carries oxygen to our tissues -- and carbon dioxide away from them. There are many congenital hemoglobin disorders. Sickle cell anemia is perhaps the most common and best known. Having an abnormal hemoglobin does not always make you anemic, and this is true of most of the thalessemias. However, some hemoglobin abnormalities (if inherited from both parents) can cause devastating anemia, like sickle cell anemia or beta thalessemia major, also known as Cooley's anemia.

The inheritance of thalessemias is quite complex. Abnormal hemoglobin can result in four types of alpha thalessemia and two types of beta thalessemia. Alpha thalessemia genes are found in Southeast Asians, blacks, and people originally from the Middle East. The first type of alpha thalessemia is a carrier state with no anemia and no symptoms; the second produces slightly abnormal red cells but no anemia; the third produces a mild anemia that generally doesn't lead to serious complications; and the fourth results in fetal death. This last type is usually seen only in Southeast Asians.

Beta thalessemia genes are more widespread -- found in Africa, the Middle East, India, Southeast Asia, and around the Mediterranean. Someone with only one of the beta genes will have beta thalessemia trait, a mild anemia in which the red cells are smaller than normal. Because small red cells are also typical of iron deficiency anemia, which is extremely common in women and children, many people with this trait are erroneously diagnosed as iron deficient, and are given iron pills. Iron not only doesn't help this mild anemia, but it can build up in the tissues. For this reason, iron should not be given to someone with this trait (unless they also happen to be iron deficient). There is now a simple test for iron in the body called the ferretin level. If someone seems to be iron deficient, but the ferritin level is normal, they probably have the first type of beta thalessemia.

Someone who inherits both beta thalessemia genes will develop Cooley's anemia. People with Cooley's require constant blood transfusions, and the build up of iron from the transfusions can lead to serious heart and liver problems. In this case, a bone marrow transplant can be lifesaving.


Thalassemia and Vitamin C (ascorbate acid) supplements

The late Dr. Linus Pauling (see also Linus Pauling Institute) advocated mega-doses of the anti-oxidant vitamin C. This is not, however, a good idea for individuals with thalassemia.

From albrite.com:

People who have a rare inherited ailment such as haemochromatosis, or sideroblastic anemia, both iron disorders, or thalassemia, should not take vitamin vitamin C supplements without a physician's supervision. The rationale is that vitamin C increases iron absorption, great for most of us but bad if this overloads your system with iron. There is however some evidence that vitamin C supplementation helps those with excess iron disorders in that vitamin C normalizes iron absorption thus helps to eliminate the excess iron.


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Last updated: 3 Apr 2006, 8:42 am