About Thalassaemia
What is thalassaemia?
Thalassaemia is a genetic condition affecting the red blood cells. Haemoglobin is a chemical found in the red blood red cells which carries oxygen from the lungs to all parts of the body. Thalassaemia occurs when a person is unable to produce the required amount of haemoglobin.
How does one get thalassaemia?
We all inherit many of our characteristics through the genes we take from our parents. For example, the shape of our nose, colour of our eyes and whether we are tall or short.
Similarly we inherit our haemoglobin type through the genes we get from our parents. We get one haemoglobin gene from our mother and the other from our father. The usual, most common haemoglobin is normal haemoglobin A. If a person inherits two haemoglobin A genes he/she will have haemoglobin AA. This is normal. If we inherit two thalassaemia genes we get thalassaemia major.
What is Beta thalassaemia trait (minor) ?
Some people inherit one haemoglobin A gene and one beta thalassaemia gene and have beta thalassaemia trait, also called beta thalassaemia minor. The red blood cells of these individuals are a bit paler and smaller than normal red blood cells. They are also a little anaemic, but this anaemia does not usually need treatment. However, they can pass on the beta thalassaemia gene to their children.
What happens if a person has thalassaemia major?
People with beta thalassaemia major are unable to make the chemical needed for producing enough mature haemoglobin. Haemoglobin is essential for carrying oxygen around the body. Without sufficient haemoglobin the body cannot carry oxygen properly and after a while the body will not survive.
What are the symptoms of thalassaemia?
Without regular blood transfusions, patients will be pale looking and fatigue easily. They have poor appetite and frequent infections. Their liver and spleen are often enlarged.
What are the essential treatments for beta thalassaemia major ?
- Regular Blood Transfusion
Usually once every 3 - 4 weeks to sustain life and to keep Hb > 10 gm
Iron overload from regular blood transfusions may damage the heart and liver and result in
stunted growth, delayed puberty, diabetes and other endocrine complications. Hence, drugs
to reduce iron (iron chelation) is the most important aspect of thalassaemia care.
- Desferal (iron removing drug) is administered over 10 hours each night, 5 to 6 nights per week injected slowly via an electrical pump.
- Oral Chelator:
Kelfer is an iron chelating agent that can be taken by mouth.
- Exjade is another orally active iron chelator that will be available soon.
What can you do to prevent thalassaemia major?
Family Planning:
- Special blood screening test or premarital test is available to find out whether you and your partner are thalassaemia carriers.
- Consult your doctor for more information about thalassaemia.
Prenatal Checkup:
- If you and your partner are thalassaemia carriers, consult your obstetrician regarding prenatal diagnosis.
Prenatal tests available are:
This test is performed from 10th to 12th week of pregnancy. It looks at cells taken from the placenta.
This is usually done between 16 th to 18 th week of pregnancy. Under ultrasound guidance, the doctor removes a small amount of the amniotic fluid for DNA testing.
This can be carried out at 18 th to 20 th week of pregnancy. A sample of the baby's blood is obtained and tested to determine whether or not the baby has Thalassaemia Major.
Is there a cure for beta thalassaemia?
Yes. It is called Bone Marrow Transplantation (BMT). Bone Marrow is obtained from a matched unaffected brother or sister or unrelated donor and transplanted to the person with beta thalassaemia disease. It is best done when the child is between 4 to 7 years of age. This treatment has been successful in thousands of people worldwide, but is not without side effects. Umbilical cord blood can also be used as a source of stem cells for transplantation. |
