What is the treatment for thalassemia major

Condition analysis:
Thalassemia major occurs when a child inherits two mutated genes, one from each parent. Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal, adult hemoglobin and experience chronic fatigue. They may also fail to thrive.

Two major consequences of the genetic defect of thalassemia are severe anemia and expansion of the bone marrow in the body’s effort to produce more red blood cells. This leads to poor growth, impaired physical activities, facial and other bone deformities, fragile bones and enlargement of the liver and spleen. If left untreated, it will lead to death within the first decade of life. The only treatment to combat severe anemia is regular blood transfusions and iron chelation therapy.

Instructions:
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. 

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.