Pete Sampras: an example of how to live with Thalassemia

A hereditary blood disease

Thalassemia (also called Mediterranean anemia) is a hereditary blood disease, that affects most commonly people of Mediterranean or Asian ancestry. Although thalassemia in its severe form (thalassemia major) can lead to severe symptoms that require lifelong treatment, patients affected by mild thalassemia (thalassemia minor) can live normal lives without treatment, and even become sport champions.

This is well shown by Pete Sampras, the U.S. tennis player of Greek origin who, in spite of his disease, was able to win a record of 14 Grand Slam men's singles titles during his 15-year tennis career.

Thalassemia is a blood disease characterized by a total or partial deficiency of haemoglobin, the blood protein found in the red cells that is responsible for transporting oxygen to the various tissues. This condition can lead to anemia and associated symptoms of fatigue, weakness, short breathing, paleness or jaundice (a yellowish colour of the skin or eyes), slow growth, facial bone deformities and dark urine. However these symptoms are usually present in patients affected by the severe form of thalassemia, while those affected by the mild form (such as Pete Sampras) often suffer no symptoms or experience only mild ones.    

The cause of thalassemia has been well established and relies upon a genetic defect in the synthesis of haemoglobin. Several genes (inherited from both parents) are involved in the synthesis of haemoglobin, so the severity of thalassemia depends upon how many of these genes are defective.

Severity of symptoms

In general terms we can say that the greater is the number of defective genes, the more severe are the symptoms (such as fatigue, weakness, pale or yellowish skin) and complications (such as bone deformities, slow growth, spleen enlargement and heart problems).

The treatment of thalassemia depends on the severity of the disease. People who are affected by the mild form can live normal lives even without treatment, although they can occasionally require blood transfusions, especially after surgery, giving birth or when they develop an infection.

On the contrary, moderate or severe thalassemia usually requires frequent blood transfusions, which are not devoid of risk.

In fact, besides the risk of developing blood-borne infections, patients treated with repeated blood transfusions can develop a medical condition known as iron overload (due to excess iron), which in turn can lead to heart and liver problems.

This is the reason why patients who receive repeated blood transfusions are often treated also with specific medications intended to prevent iron overload. For patients with extremely severe thalassemia, a bone marrow transplant may be needed, although this surgical procedure is rarely performed due to its risk.

Thalassemia and remedies

Lifestyle remedies are important as well. Diet should be well balanced, rich in nutritious energy-dense foods and possibly supplemented (according to the doctor's advice) with folic acid to help make new red cells, as well as zinc, calcium and vitamin D to help bones stay healthy.
However, it is important to remember that, to avoid iron overload, vitamins and other supplements should not contain iron.

Because of their need to receive occasional or repeated transfusions, patients affected by thalassemia should have themselves be covered by an appropriate health insurance plans before the condition occurs.

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