Thalassemia
Thalassemia is the commonest hereditary blood disorder known. It is characterized by a reduced or erroneous production of hemoglobin.Types of Thalassemia
- Thalassemia Minor
- Thalassemia Major
Thalassemia Minor
This is also known as Thalassemia carrier or trait. These poplr are perfectly healthy themselves but can pass on the trait to their children. Detection of carrier state is possible by a simple blood test called Haemoglobin Electrophoresis.
Thalassemia Major
A child with Thalassemia mojor appears healthy at birth but gradully becomes pale, loses appetite, suffers frequent infections and develops an enlarged liver and/or spleen, usually between 3 to 6 months of age. If untreated, the condition of the child rapidly worsens, the hemoglobin level keeps going down and the child dies within 3-5 Years.
How is Thalassemia Major treated ?
This disease should be treated only in centers, which have adequately trained staff and proper facilities. Thalassemic children require repeated blood transfusions every 2 to 3 weeks, as a result of which they may face the following problems.
- Storage of blood - This can be overcome if healthy member of the societydonate blood frequently.
- Blood borne infections - Infections like hepatitis B, C and HIV spread through blood transfusion. The transmission of these disease can be decreased by proper screening of donated blood.
- Blood transfusion reactions - These occure since the transfused blood is perceived as a 'foreign body' To avoid these, reactions blood should be properly cross matched. Use of packed cells and leucocyte filters also helps to bring down the incidence of these reactions.
- Iron deposition in the body - Due to multiple transfusions and excessive red blood cell breakdown, iron is liberated. This excess iron is deposited in varouus tissues and organs, particularly the heart, liver and deposition leads to irreversible damage. So the child needs iron chelation i.e. drugs that bind and remove extra iron from the body.
What is the cost of treatment ?
If treated properly, the average cost varies between Rs.50,000 to 2 Lakhs per year, per child.
Can Thalassemia major be cured ?
The only cure known for thallasemia is bone marrow transplantation (BMT). The facilities of BMT are available only a few center in India. The procedure is very costly and requires between Rs.6 to 11 lakhs. The chances of finding an HLA matched donor are only 25% making it difficuly for most people to avail of this curative surgery.
How Thalassemia passed from parents to their children ?
Since it is a hereditary disease the following possiblities arise:-
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Can Thalassemia major prevented ?
Thalassemia major can be prevented by screening all yound people for the presence of thalassemia trait. In the event of marriage between two thalassemia carriers proper genetic counseling and diagnosis during pregnancy can prevent the birth of a thalassemia major. The facility for detection of carrier state as well as for antenatal diagnosis is available at any center committed to thalassemia care.
By:-
Dr. PRAVEEN C. SOBTI (Incharge Thalassemia Section - Department of Paediatrics - DMCH, Ludhiana, Pb - INDIA)