KP urged to ease pre-marriage thalassaemia screening

PESHAWAR: Health experts have urged the Khyber Pakhtunkhwa government to adopt a simpler and more workable pre-marriage screening system and ensure free access to chorionic villus sampling (CVS) testing to help curb thalassaemia in the province.

Officials said the Khyber Pakhtunkhwa Health Preventive Act was enforced in 2009 to control thalassaemia and hepatitis, but it has not been implemented effectively. They said one of the main reasons was the cost and limited availability of High-Performance Liquid Chromatography (HPLC) testing, which costs Rs2,500 and is available on only six machines in the province, including in Peshawar, Swat and Abbottabad.

According to officials, around 200,000 marriages take place in Khyber Pakhtunkhwa every year, meaning 400,000 HPLC tests would be needed annually if both prospective spouses were screened through that method. They said this would cost about Rs1 billion.

Haematologist Prof Yasar Mehmood Yousafzai of the Institute of Pathology and Diagnostic Medicine at Khyber Medical University has written to the health department, asking it to adopt what he described as a practical model to meet a key public health objective and protect people from avoidable suffering, repeated transfusions and lifelong treatment.

In his letter, Prof Yasar said the success of any screening programme depended on scientific design, affordability and feasibility, and argued that making HPLC compulsory for every prospective couple would be costly and restrictive.

"In public health practice, the first step should be a simple and accessible screening test, while more expensive confirmatory testing should be reserved for those who actually need it," he noted.

The expert proposed that complete blood count (CBC) should be used as the first-line screening test for all prospective couples, while HPLC should be reserved for people whose CBC results show microcytosis, low mean corpuscular haemoglobin (MCH), anaemia or other suspicious red-cell indices.

He said a CBC-based first-line premarital screening model was expected to identify the overwhelming majority of clinically relevant beta-thalassaemia carriers. "A small minority of silent carriers may have near-normal or normal red-cell indices and therefore escape first-line detection, but such cases are uncommon," he added.

Prof Yasar, who also serves as director of the Public Health Reference Laboratory, said the possibility of both partners being undetected silent carriers was exceptionally low in the general population, though he added that the risk could be relatively higher in communities where consanguineous marriages are common.

He said CBC was much less expensive than HPLC and was available at many peripheral health facilities. By contrast, he said making HPLC mandatory across the province would require major spending not only on equipment but also on reagents, calibrators, maintenance contracts, technical staff, validation, external quality assurance and uninterrupted supply chains.

"It would take considerable time to establish a reliable province-wide HPLC network and if implementation is rushed without adequate public-sector readiness, the burden will shift to the private sector, with predictable risks of high cost, variable quality and chorionic villus superficial compliance," he insisted.

He also said a screening programme had to be acceptable to the public, warning that if couples were required to travel long distances, pay high fees and wait for reports from a few urban centres, compliance would likely suffer. He said a CBC-first approach would probably secure better uptake, trust and public cooperation than an HPLC-only model.

Prof Yasar called for a system in which CBC is used for all, HPLC is reserved for abnormal or equivocal cases, and partner testing is carried out when one individual is confirmed as a carrier. He urged the government to act before the preventive measure turns into an administrative and financial burden.

Concerns over implementation and CVS access

Hamza Foundation Chairman Ijaz Ali said the province had around 50,000 thalassaemia patients. "We are still registering two or three new patients every month which is proof that the law isn’t implemented," he said.

Ijaz Ali said there was no diagnostic facility in the province to detect thalassaemia major in a foetus through CVS testing, and that mothers affected by thalassaemia were being sent to Rawalpindi for the test, which costs around Rs20,000.

He said Punjab had already implemented the law on thalassaemia eradication and was providing all related services free of charge. "We have facilitated abortion of 129 babies with thalassaemia major diagnosed during CVS test in the last one year and if this test is made free, we will be able to prevent birth of thalassaemia children," he said.