May 8th is observed as international Thalassaemia day all over the world. It is a reminder that we owe a responsibility to look after the children suffering from this genetic disorder and to prevent this disease from occurring in our future generation.
Beta Thalassaemia is the most common inherited disorders in Pakistan, with a prevalence rate of 6 %. This translates that 6 out of every 100 Pakistanis carry this mutant gene. With a population of 180 million, 11 million people are healthy carriers of this gene and when two carriers marry each other there is 25% chance of giving birth to an affected child with Thalassaemia in each pregnancy. There are more than 50,000 Beta Thalassaemia children in our country, who require regular monthly blood transfusions and chelation therapy to withdraw the excess iron from their bodies.
Forty four Thalassaemia associations of Pakistan have joined hands and formed a Federation by the name of Thalassaemia Federation of Pakistan (TFP). The purpose of establishing TFP has been to support the various associations nationwide which work for the cause of treatment and prevention of Thalassaemia. TFP provides a platform that unites the associations so that free exchange of information and experience takes place- which helps in forming a collective forum against Thalassaemia. The achievements of TFP include the development of treatment and prevention protocols of Thalassaemia in Pakistan.
The treatment of Thalassaemia is expensive and the government has not given the due importance to this disease. Many thalassaemia patients often die without a diagnosis, whereas those diagnosed find it hard to get adequate treatment. One of the ways to reduce this massive socioeconomic burden is to prevent the birth of affected children. So far the burden of treatment and prevention of Thalassameia has mainly been borne by NGOs as the government has not taken up its responsibility of providing the required healthcare to Thalassaemics. Recently the government of Punjab has initiated Punjab Thalassaemia prevention program, which is an important first step towards the prevention of Thalassaemia from Punjab province.
TFP urges the provincial governments to provide free treatment and prevention services to Thalassaemics in the country. The prevention programs should constitute a number of initiatives starting from creating mass awareness about Thalassaemia. Secondly there should be target screening of carriers, which means that the relatives of any family having an affected Thalassameia major child should be screened extensively to identify the carriers particularly in those of reproductive age. It is a established fact that through this procedure 30% of carriers can be identified and is therefore cost effective. Once these families have been screened, they should be given genetic counselling to inform them about the condition, how it is transmitted from one generation to another and what are the prevention options available to at risk couples. Finally, at risk couples should be provided with the facility of prenatal diagnosis so that they have the option to prevent the birth of affected children.
Such prevention programs have been pursued by countries like Cyprus and Iran, which have resulted either in complete control of Thalassaemia major or significant reduction in the prevalence of Thalassaemia major in these countries.
It is therefore, TFP urges all the provincial governments to step forward and take this responsibility of providing adequate treatment and prevention services as it is unfair to expect that NGOs alone could manage such a large problem.
Prof. Dr. Yasmin Raashid
Secretary General
Thalassaemia Federation of Pakistan
