Thalassemia in Athletes

Thalassemia is an inherited disease in which the body makes abnormal hemoglobin 1.* Hemoglobin is composed of two alpha and two beta subunits. A deficiency in either type is abnormal and leads to thalassemia 1.* The altered hemoglobin is produced within red blood cells, which are then destroyed at an abnormally frequent rate. Since the red blood cells use the hemoglobin to carry oxygen throughout the body, an athlete with thalassemia is at a significant disadvantage 1.

Detecting Thalassemia in Athletes

An athlete with any of the forms of thalassemia will present with symptoms of anemia 1. However, this anemia does not respond to iron supplementation, and if the athlete is tested, iron levels will be normal.** Further blood testing will also reveal an imbalance between the two subunits which compose hemoglobin.

Mild Thalassemias Compatible with Athletic Activity

Some thalassemias do not produce many, if any, symptoms. Persons with alpha- or beta-thalassemia minor, in which only one of the genes responsible for hemoglobin production is affected, may only display mild anemia with slight fatigue 1.** Persons with either of these thalassemias may be able to participate in athletic activity without serious consequence, upon the advisement of a physician.

Severe Thalassemias Incompatible with Athletics

Alpha-thalassemia major is a severe form that is incompatible with life; fetuses usually die in utero 1. Beta-thalassemia -- intermedia and major -- may be treated with blood transfusions 1. Over time, these transfusions cause excess iron to accumulate in the body. Desferrioxamine is administered either intravenously or subcutaneously to remove the iron and to protect the organs of the body from being damaged. Persons with these types of thalassemia most likely will not be able to participate in vigorous athletics 1.**

Precautions for Athletes with Thalassemia

Since this disease is genetic, there is no way to completely eliminate it. Thus, precautions must be taken to prevent the athlete from life-threatening complications. Athletes should be carefully observed at all times. Hydration is the primary measure of prevention, especially with outdoor activities. Those with severe thalassemias should avoid contact sports and limit heavy exertion. Also, high-altitude activities, including flight in pressurized cabins, is highly discouraged.