Thalassaemia, still a neglected disease
Thalassaemia is the most common congenital disorder in the world including Bangladesh, but one of the least known diseases among the people. Parents who carry the abnormal genes pass it to their children. A carrier is normally healthy and does not know his/her genetic haemoglobin status. The couple only comes to know when a child is born with thalassaemia and diagnosed a few months later resulting in a pathetic condition to know that there child will have to be given blood throughout his/her life along with chelating drugs due to accumulation of iron in the body. There is a 25% chance of a child suffering from thalassaemia if the parents are carriers.
The carrier status of thalassaemia trait is about 10% in Bangladesh which means that there are about 16 million carriers, but presumably less than 1% of the population is aware of it. More than 7,000 thalassaemic children are born each year although this may not be an accurate estimation as there is a wide variation in carrier status in different regions of Bangladesh with very high frequency in tribal people.
In thalassaemia, there is a defect in the production of haemoglobin leading to anaemia. In order to correct the anaemia, regular blood transfusion is needed. Regular blood transfusion results in excessive collection of iron in the body 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 life-long. Bone marrow transplantation is the only cure but very costly and has many complications.
Infant mortality rate is rapidly decreasing in our country due to targeted vaccination programmes, better health care and nutrition with the rise of per capita income resulting in more children attending hospital with genetic disorders like thalassaemia.
Thalassaemia poses demanding challenge in terms of managing with limited resources in developing countries like Bangladesh. Awareness, screening of carriers and prevention of births of thalassaemic children by prenatal diagnosis of couples is important. The role of gynaecologists and obstetricians is also important as they should advise couples early to know their carrier status.
In early 1970, Cyprus having one of the highest rates of carriers, started the programme of awareness and screening, but it failed to reduce the births of thalassaemic children as there were no facilities for prenatal diagnosis. But with the availability of facilities of prenatal diagnosis, the births of thalassaemic children has drastically fallen nearly to zero. Several countries like France, Hong Kong, Iran, Singapore, Thailand and United Kingdom have started comprehensive national prevention programmes which include education, screening of carriers, counseling as well as information on prenatal diagnosis. Genetic disorders have been included in the 12th Five Year Plan in India and the country is now taking steps to prevent and manage hereditary blood disorders. In Sri Lanka the ministry is working to impose new laws to make premarital blood testing compulsory.
In Bangladesh, every couple should be advised to have their carrier status known before marriage or in the early pregnancy and if anyone of the couple is positive for thalassaemia, DNA analysis should be advised with the option of abortion to the parents. DNA laboratories should be set up in every division with appropriate training facilities. The government should also create programmes to create awareness of the disease and screening a larger population. Recently the government of Bangladesh has started screening programme in a limited scale which is very encouraging and soon we want to see the births of thalassaemic children to drop rapidly like the rest of the world.
The writer is the President of Dhaka Shishu Hospital Thalassaemia Center.