PUBLISHED
September 21, 2025
Seven-year-old Muhammad Aban, from a poor family and currently admitted to Benazir Children’s Hospital in Mardan (BCHM), longs to play with other children but is too weak due to complications from thalassaemia.
Diagnosed when he was just 11 months old, he needs two to three blood transfusions every week to survive. His mother, Aneela Bibi, says he has spent much of his childhood in hospitals undergoing treatment. Aban’s 11-year-old elder brother also suffers from the same disease and has survived only because of regular blood donations, she shares.
“First, we would ask relatives and neighbours, and then my husband’s friends would donate blood for our children,” she says. “But later they became reluctant to visit hospitals and donate blood. Although the hospital now provides free blood, the treatment of other complications caused by thalassaemia is quite difficult for us.”
“When my sons face a shortage of blood, they start vomiting, have digestion issues and cannot eat properly, so we have to rush them to the hospital for a transfusion,” she explains. “It always becomes a difficult time, especially as we are a poor family.”
Aban’s parents are cousins, and when they were getting married, no premarital genetic screening was done, which is vital for identifying thalassaemia and other genetic disorders. “Our first baby girl is healthy, but later these two sons were diagnosed with thalassaemia,” says Aneela Bibi. “In our society, there is no concept of such tests before marriage; that is why we did not consider screening before matrimony. Also, these are the first thalassaemia cases in our family.”
The Hamza Foundation, a Peshawar-based welfare hospital and thalassaemia centre, reports that around 25,000 people in Khyber-Pakhtunkhwa (K-P) suffer from thalassaemia, with 1,500 registered for treatment with the centre. Nearly 6,000 new cases emerge each year and doctors affiliated with the hospital say 80 to 90 per cent occur in families with cousin marriages, a common practice in the province.
A recent research study conducted by researchers from Islamia College University Peshawar, Abdul Wali Khan University Mardan, and Government Postgraduate College Dargai, Malakand reveals that, in addition to thalassaemia, there are about 131 rare genetic disorders, also known as orphan diseases, 71 per cent of which are associated with consanguineous marriages.
Dr Qaiser Zaman, a human geneticist specialising in rare genetic disorders and Assistant Professor at Government Postgraduate College Dargai, Malakand, shared that thalassaemia is more widely known among the public compared to other rare genetic disorders, most of which are associated with consanguineous marriages.
“About 71 per cent of rare genetic disorders are caused by autosomal recessive mutations,” he explains. “These are diseases that remain hidden in parents but when passed on to their children, they appear in the form of disease in their bodies. The rate of orphan diseases in Saudi Arabia is recorded at 83 per cent, while in the Middle East it is 50 per cent, due to the common practice of cousin marriages in Muslim societies such as these.”
He mentioned that in the study, a total of 1,374 males and females from 272 families across K-P suspected of having rare genetic disorders were enrolled, adding the index patient from each family was screened using Whole Exome Sequencing (WES), which successfully diagnosed 69.5 per cent of the cases.
“In this study, we have described 131 genetic disorders, but the actual number may go far beyond this,” he adds.
The study reveals that among the families diagnosed through WES, autosomal recessive mutations were the most common (70.8 per cent), largely resulting from cousin marriages. These were followed by autosomal dominant mutations (14.6 per cent) observed in non-cousin unions. X-linked hemizygous mutations accounted for 8.3 per cent, while compound heterozygous recessive mutations were reported in 6.3 per cent of cases.
The occurrence of compound heterozygosity indicates that the Pakhtun population is becoming increasingly saturated with recessive mutations, which may also appear in non-consanguineous marriages.
The enrolled families were further classified into major groups: skin disorders (19.1 per cent), vision-related disorders (18.4 per cent), hearing impairment (9.6 per cent, including both syndromic and non-syndromic cases), neurological disorders (37.7 per cent), and skeletal disorders (25.4 per cent). Within the neurological group, the distribution included intellectual disability (16 per cent), physical disabilities (8.8 per cent), epilepsy (5.4 per cent), and muscular dystrophies (3.2 per cent).
Dr Zaman pointed out that the government’s lack of attention to this matter is primarily the reason why the disease cannot be diagnosed locally, as there are no diagnostic facilities available.
He shared that diagnosing these diseases abroad is very expensive, adding that if the government provides WES facilities to local medical universities and research centres, it could be done at a lower cost without sending human samples to developed countries for screening.
According to Dr Abbas Ali Khan, a paediatrician at BCHM, about 300 thalassaemia patients are registered at the facility, where children such as Muhammad Aban receive free medicines, screening, as well as blood transfusions according to their needs.
“On a daily basis, two to three thalassaemia patients are admitted to the ward with complications, while in the OPD about 50 per cent of patients visit us with thalassaemia, which shows how serious the situation is,” he says.
Dr Khan added that most thalassaemia patients die at an early age, while some reach up to 14 years but with health complications.
The Khyber-Pakhtunkhwa Assembly passed the Preventive Health Act 2009, which makes premarital Hepatitis-C and thalassaemia screening tests mandatory for both bride and groom, whose results would be obtained by the nikah or marriage registrar.
However, according to Dr Abbas, the law is not fully implemented, and the required tests are often not conducted by either side.
“Implementation of the law is very important,” he emphasises. “Like in the case of thalassaemia, the government should make screening tests for other genetic or orphan diseases mandatory before matrimony in order to safeguard the future of our forthcoming generations.”
For families like Aneela Bibi’s, the struggle against thalassaemia and other inherited disorders is not only a medical challenge but also a social one — shaped by tradition, lack of awareness, and gaps in public health policy. Without widespread implementation of premarital screening, investment in local diagnostic facilities, and consistent public education, the cycle of preventable suffering will continue. Yet, with timely action, the next generation could be spared the ordeal that is now endured by children like Muhammad Aban.
Abdur Razzaq is a Peshawar-based multimedia journalist. He tweets @TheAbdurRazzaq
All facts and information are the sole responsibility of the writer
