Thalassaemia testing

The National Assembly’s passage of the bill mandating premarital thalassaemia screening in Islamabad is a much-needed first step towards reducing the incidence of the potentially deadly blood disorder. The disorder, which is hereditary, has an unusually high rate of incidence in countries such as Pakistan and areas with large South Asian populations because of disproportionately high numbers of marriages between cousins. While many people with thalassemia do not show symptoms, the disorder usually leads to anemia, which can be fatal.

The numbers paint a grim picture. Some estimates say Pakistani has about 10 million thalassaemia carriers, with over 5,000 children born with the disease every year. And while other countries have made significant efforts to combat the disease, we are only now taking our first step, and that too is limited to Islamabad.

For comparison, in Iran, mandatory premarital screening has been in place since 1996. In Turkey, a national programme launched in 2003 led to a 90% reduction in affected births within just seven years.

Most strikingly, Cyprus went from having one of the highest incidences of thalassaemia in the world to effectively eliminating new cases through a policy combining mandatory screening with prenatal diagnosis. In many other situations, simply increasing awareness has also played a positive role. In the UK, thalassaemia incidence is close to 1 per 1,000 births overall, but a shocking 1 in 25 for the Pakistani community.

The success of programmes in other countries should inspire hope that, if done right and replicated across the country, new cases of the painful blood disease can be eliminated within a few short years. The true test, however, will be in enforcement, which is where the best of Pakistani legislation goes to die. Unless we address the gap between legislative approval and ground-level reality, any new laws or rules become irrelevant.