WHAT IS THALASSEMIA |
Thalassemia is a genetic disorder that impair an individuals' ability to produce red blood cells. It can be generally be classified into 2 types - alpha and beta. Beta is more common. Both can be serious.
There is currently no cure. It is the most common genetic disease in Malaysia and in South East Asia. |
HOW COMMON IS THALASSEMIA |
Malaysia is well inside the thalassemia distribution zone. In Sabah for eg. certain communities have a 1 in 20 risk of being a carrier.
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WHAT ARE THE SYMPTOMS OF THALASSEMIA |
Red cells carry the oxygen absorped from the lungs during breathing to all parts of the body as blood is pumped by the heart. In the red cells the oxygen is attached to the molecule hemoglobin. Thalassemia (deletion of the thalassemia gene) results in red cells that do not last long and get destroyed too fast for new production to balance out. The net is low hemoglobin levels. And this results in reduced oxygen carrying ability.
Symptomatic thalassemia (beta thalassemia major) patients are usually pale, weak and short. They require repeated blood transfusions for life. Alpha thalassemia major (Barts) is not compatible with life as no hemoglobin can be produced at all. All babies die in the womb or just after birth. Carriers (minor) generally are normal but can occasionally show varying degrees of anemia (low hemoglobin) especially during periods of increased demand like pregnancy or if combined with other red cell diseases such as HbE, HbS, Hb COnstant SPring and others. |
DO I HAVE THALASSEMIA |
It is possible if your parents' status is known.
If both your parents are carriers (see image) then you have 50% chance of being a carrier. If you have symptoms of anemia then it could be that you have a 25% chance of having thalassemia major. However, if your parents' status is unknown your chance is equal to your community's average. All races in Malaysia are potential thalassemia carriers. Thalassemia is the most common genetic disease among Malaysians. |
HOW DO I CHECK MYSELF |
Begin with a screening full blood count. It is a simple test. It involves taking a blood sample. This test only suggests if you have thalassemia or not. This test may also suggest possibility of other causes of low hemoglobin. Most clinics and labs offer this test but it is always better to go through a doctor.
If the FBC is suggestive then the next test to confirm (by analysing the red cell hemoglobin) is the hemoglobin electrophoresis. This test is enough for adults to confirm if they are carriers or not. 
Genetic testing of thalassemia is rarely required to confirm. The scenario where this is necessary is as follows:
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WHAT ARE MY OPTIONS |
People with thalassemia with anemia need specialized care.
Healthy carriers of the condition face a dilemma. They have the following options:
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