Disease & Treatment
Disease
Thalassemia is a genetic blood disease. People born with this disease cannot make normal hemoglobin which is needed to produce healthy red blood cells. Thalassemia is not infectious and cannot be passed from one individual to another by personal contact.
Thalassemia is most often found in families of Chinese, South Asian, Middle Eastern, Mediterranean or African origin. The only way to know if you carry the Thalassemia trait is to have a special blood test called hemoglobin electrophoresis. If you are in an at-risk group, request a test from your doctor.
The combination of one gene from the mother and one from the father leads to three different types of thalassemia: Thalassemia Minor, Thalassemia Intermedia, or Thalassemia Major.
Treatment
Regular blood transfusions are the only treatment available to patients with thalassemia. It allows thalassemia patients to live relatively normal lives, however, a cure remains to be found for this disease. The genetic cause of thalassemia was one of the first genes discovered in the 1970s, yet 30 years later, gene therapy still eludes thalassemia patients.
Most thalassemia major patients require transfusions every 2-4 weeks, depending on the individual’s consumption of the infused cells. While regular transfusions greatly contribute to the quality and length of life of thalassemia major patients, they also leave patients with an excess of iron in their bodies. This dangerous side effect is known as iron overload. Click here learn more about iron overload.
Regular blood transfusions provide thalassemia patients with the red blood cells they need to survive. Once these red blood cells are broken down, however, the body is left with an excess of iron.
Although iron is essential to the body, excess iron can lead to organ failure and death. It is necessary that this excess iron be removed, or chelated, because it stores in the vital organs of the body, such as the heart and liver.
Nowadays, drugs designed to remove excess iron (iron chelators) have significantly changed the prognosis of thalassemia major. Patients can grow and develop normally, with relatively normal heart and liver functions. Adult patients are living well and some have children of their own. Medical advances continue and promise to improve the life expectancy and quality of life further for those living with thalassemia.
