WHAT IS THALASSEMIA?

The thalassemias are a group of genetic blood disorders which affect normal hemoglobin production in the body. This means the body does not have the capacity to produce sufficient hemoglobin needed for various activities. This results in chronic anemia. Reduced hemoglobin production may be due to defects in either the beta-globin gene producing hemoglobin or the alpha-globin gene producing hemoglobin.

There are nearly 300 different mutations identified in many forms of thalassemia. The most prevalent mutations in India are beta-thalassemia and alpha-thalassemia though beta-thalassemia numbers are higher (estimated at nearly 100,000 thalassemia majors with 35-40 million carriers).

The clinical severity of thalassemia varies from thalassemia major (lifelong dependency on blood transfusion and other therapies), thalassemia intermedia (may require blood transfusions) and thalassemia minor (carriers who are otherwise healthy and normal).

Thalassemia is inherited from both parents which means mother and father have the carrier gene to produce a child with homozygous thalassemia who will present with signs and symptoms of the full-blown disease.

SYMPTOMS

Thalassemia signs and symptoms may include.

           a). Fatigue.

           b). Weakness.

           c). Pale or yellowish skin.

           d). Facial bone deformities.

           e). Slow growth.

           f). Abdominal swelling.

           g). Dark urine.

Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.

CAUSES

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.

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.