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Prevent Thalassaemia: test before you get married

Prof WaqarA Khan
Thalassaemia is an inherited disease affecting the blood. Although it is the most common congenital disorder in the world including Bangladesh, people know very few about the disease.
The abnormal gene that is responsible for Thalassaemia is passed on to the patients from their parents or grandparents. It only occurs when both father and mother carry the abnormal gene and transmit to their child. There is 25% chance of a child suffering from Thalassaemia in such case.
However, if any of the two partners is a carrier of abnormal gene and other one is normal, there is no chance of occurring Thalassaemia. Thus, there is scope of prevention of this disease by awareness of people and testing for the disease before marriage.
The carrier status of Thalassaemia trait is about 10% in Bangladesh. It means there are approximately 16 million carriers, but presumably less than 1% of the population is aware of this disorder.
In Thalassaemia, there is defect in the production of red pigment of blood called haemoglobin that carries oxygen to our tissue. This leads to a condition called anaemia
characterised by weakness, fatigue, feeling faint, shortness of breath and growth failure.
In order to correct anaemia, regular blood transfusion is needed to keep hemoglobin up to normal level. But there is risk in transfusion too. It results in excessive collection of iron in the body and which is toxic causing damage to the heart, liver, pancreas and pituitary gland leading to organ failure. This iron
needs to be removed by drugs which are expensive. The treatment is lifelong. Bone marrow transplantation is the only cure; but it is very costly and has complications as well.
Thus, prevention is always the best strategy. Awareness, screening of carriers and prenatal diagnosis of couples are important steps in preventing the births of Thalassaemia. We can take inspiration from Cyprus that
showed awareness can completely eradicate the disease. In early 1970, Cyprus with one of the highest rate of carriers of Thalassaemia started a programme of awareness and screening. But it failed to reduce the births of thalassaemic children as there was no facilities for prenatal diagnosis. Then they made it available and the births of thalassaemic children had drastically fallen.
At present, several countries like Italy, Greece, UK, France, Iran, Thailand, Singapore and Hong Kong have started comprehensive national prevention programme which include education, screening of carriers and counselling as well as providing with information on prenatal diagnosis.
Our government should make better facilities to treat the patients and ultimately prevent the disease. About seven to eight thousand children are born with Thalassaemia every year in Bangladesh and suffer till their early death. The irony is we could prevent those births and the agony of children and their families.
The following steps need to be taken in order to make Bangladesh free from Thalassaemia.
• All government laboratories should have facilities to diagnose the disease and detect traits.
• Awareness of the disease and screening of carriers along with prenatal diagnosis of the foetus should be started with the option of abortion of the affected child.
The writer is the President, Dhaka Shishu Hospital Thalassaemia Center.
E-mail: waqarkind@gmail.com