Thalassemia

Thalassemia is an inherited disease where there is a fault in the production of hemoglobin in the blood. Hemoglobin is the pigment in the red blood corpuscles which carries oxygen. This eventually leads to a shortage of red blood cells in the body, and thus causes anemia.

This disease is genetically transferred. Often the parents may be carriers, but they may not suffer from the disease itself. But, the children remain at risk. Babies that are born with a severe version of Thalassemia, often die before or shortly after birth.

As such, there is no cure for Thalassemia. The only way that patients can cope with this disease is via blood transfusions. These can be as often as once every 2 – 3 weeks. Blood transfusion is also accompanied by iron chelation therapy. Transplanting the bone marrow cells has shown positive results in some cases.

The cause of Thalassemia is always genetic. It is an inherited disease. Either or both the parents are the carriers of the disease. Those who are carriers of Thalassemia often have only one parent who has the disease and the other parent is normal. These people often suffer from anemia, but do not suffer from Thalassemia. However, these genes are passed on to their children.

There are two types of hemoglobin protein chains: alpha globin chains, and beta globin chains. Those who have a problem with the alpha globin chains are said to suffer from Alpha Thalassemia, and those with a problem with the beta globin chain are said to suffer from Beta Thalassemia.

The symptoms of Thalassemia are often dependent upon the severity of the disease. The most common symptom is, of course, anemia. The carriers do not show any symptoms at all. However, those suffering from severe Thalassemia may often show the following symptoms:

• Severe Anemia.
• Fatigue and Weakness.
• Shortness of Breath.
• Headaches.
• Abnormal Facial Bones and Poor Growth.
• Pale Skin.
• Dark Urine.
• Protruding Abdomen, Enlarged Liver and Spleen.
• Jaundice.

An estimated 60 – 80 million plus people in the world are carriers of Thalassemia. In the next 50 years, this disease is going to present a huge problem. The blood bank supplies and the health system in general are looking at these possibilities very seriously. The only way one can prevent the spread of Thalassemia is via genetic counseling and genetic testing.

It has therefore been suggested that before getting married or before planning a pregnancy, both the parents get their blood tested in order to assess and understand if the future child is in danger of contracting the disease or not.