Pakistan’s Fight to Eradicate this Condition
Thalassemia is a genetic disease of the blood where patients cannot make enough red blood cells and require lifelong extensive treatment including regular blood transfusions. With a prevalence of 5%, and with over 8 million carriers nationally, the burden of Thalassemia is high in Pakistan.
In a country where healthcare is a business and government hospitals are scarce, the poor often have nowhere to go. Yet changes are afoot. Public awareness campaigns to prevent the birth of babies with this disorder, coupled with aggressive genetic screening programmes, aim to tackle the spread of this disease.
to assess their
chances of having
a child with
Thalassemia may be characterized by the inability of the body to produce an adequate amount of haemoglobin in red blood cells. Thalassemia comes in two forms: minor and major. Whilst the first form results in mild anaemia, little treatment is needed and complications rarely arise. The latter form, however, results in severe anaemia and patients require lifelong intensive medical care. This problem occurs when two people with thalassemia have children – each child has a 25% chance of developing thalassemia major. The treatment and management of this condition is a huge financial and psychological burden on both the patient and family.
With over 100,000 thalassemia patients in Pakistan – with about eight million carriers – the complex and lifelong treatment for thalassemia patients presents a major healthcare challenge to this developing nation. Blood transfusion costs alone are in the region of £1000-1500 per child per year – and that is before other medical and travel costs have been included. State of the art life-prolonging treatment is out of reach for up to 95% of patients and life expectancy can be as low as 15-20 years.
In a country like Pakistan, where children with thalassemia are refused registration in even private hospitals, prevention is a necessity.
Prevention is Better than Cure
Prevention may take several forms:
Pre-nuptial blood screening allows potential partners to assess their chances of having a child with thalassemia.
Blood tests for potential parents (already married).
Pre-natal blood tests during weeks 18-20 of pregnancy.
In countries ranging from Iran and Saudi Arabia to Cyprus, pre-nuptial screening for certain diseases is compulsory and mandated by religious authorities. The success of prevention in these countries is evident. In Iran, a national thalassemia-screening programme led to a drop in new cases from 1200 to just 70 over a 5-year period. Furthermore, they estimated that the ratio of cost of treatment to prevention of thalassemia is 10:1 – that is, the cost of treatment is 10 times the cost of prevention.
In the UK, there is an emphasis on educating people through the media, and then offering help and advice when asked. This is particularly the case with respect to genetic diseases. While the ethical implications of compulsory pre-nuptial screening programmes are likely to be questioned here, their impact in countries where they have been implemented is conclusive – they work.
The current campaign for prevention of thalassemia in Pakistan targets these areas:
Raising awareness of the disease
Educating the population about genetic diseases
Stressing the importance of screening carriers
Providing genetic counselling for carrier parents
Thalassemia Societies across the country are working on these aims. Securing support from influential individuals including doctors, politicians and businessmen has furthered their cause. However, to completely eradicate the disease and achieve results such as those seen in Iran, a coordinated government-led effort to provide a national screening and prevention programme is needed.
The Hand that Stirs the Pot
Thalassemia was brought to the forefront of Pakistani politics when a bill was drafted in Parliament to make pre-nuptial screening compulsory. Contrary to expectations, it was patient groups who were the driving force behind political change, supported by Pakistani MNAs and doctors, as well as British MPs including Dave Anderson.
The law, which has already been implemented in several provinces, does not ban couples from getting married if they find out they are both, for example, thalassemia minor carriers; it does however, give them the advantage of knowing what the future might hold for them and any child they might have.
It is evident that thalassemia is a problem around the world, yet many countries have been successful in driving rates of the disease down. In the UK, adequate treatment is available to help a child with thalassemia survive; however, in a country like Pakistan which has limited resources and expensive health-care, life expectancy is very low. While improved access to treatment is needed in the short-term, radical genetic screening programmes may be the key to a long-term decline in cases.
Zoha Shaikh studies Medicine at Imperial College London and is a member of Medsin’s Global Health Forum.