Posted on September 21, 2025
Muhammad Aban, seven, of a poor family and has currently admitted to the Benazir children’s hospital in Mardan (BCHM), aspires to play with other children but is too low due to complications of thalassemia.
Diagnosed when he was only 11 months old, he needs two to three blood transfusions each week to survive. His mother, Aneela Bibi, says that he spent much of his childhood in hospitals under treatment. Aban’s older brother, 11, also suffers from the same disease and only survived, because of ordinary blood donations, she shares.
“First of all, we ask parents and neighbors, then my husband’s friends gave blood for our children,” she said. “But later, they have become reluctant to visit hospitals and give blood. Although the hospital now provides free blood, the treatment of other complications caused by thalassemia is quite difficult for us.”
“When my sons face a blood shortage, they start to vomit, have digestion problems and cannot eat properly, so we have to rush them to the hospital for a transfusion,” she explains. “It always becomes a difficult period, especially since we are a poor family.”
Aban’s parents are cousins, and when they get married, no genetic screening before marriage has been done, which is vital to identify thalassemia and other genetic disorders. “Our first little girl is in good health, but later, these two sons were diagnosed with a Thalassémie,” explains Aneela Bibi. “In our society, there is no concept of such tests before marriage; This is why we did not plan to detect before marriage. In addition, these are the first cases of thalassemia in our family. ”
The Hamza Foundation, a social protection hospital based in Peshawar and a thalassemia center, reports that around 25,000 people in Khyber-Pakhtunkhwa (KP) suffer from thalassemia, with 1,500 registered in the center. Nearly 6,000 new ones are emerging each year and that doctors affiliated to the hospital say that 80 to 90% occur in families with cousin weddings, a common practice in the province.
A recent research study carried out by researchers from the University of Islamia College Peshawar, Abdul Wali Khan Mardan University and the Government of the Dargai third cycle college, Malakand reveals that, in addition to thalassemia, there are around 131 rare genetic disorders, also called orphans, of which 71% are associated with consanguineous markers.
Dr. Qaiser Zaman, a human geneticist specializing in rare genetic disorders and assistant professor at the Government Postgraduate College Dargai, Malakand, shared that thalassemia is more widely known among the public compared to other rare genetic disorders, most of which are associated with consanguineous marriages.
“About 71% of rare genetic disorders are caused by autosomal recessive mutations,” he explains. “These are diseases that remain hidden from parents, but when they are transmitted to their children, they appear in the form of a disease in their bodies. The rate of orphaned diseases in Saudi Arabia is recorded at 83%, while in the Middle East, it is 50%, due to the common practice of cousin marriages in Muslim societies like these. ”
He mentioned that in the study, a total of 1,374 men and women of 272 KP families suspected of having rare genetic disorders were registered, adding that the index patient of each family was detected using the sequencing of the whole exome (WES), which successfully diagnosed 69.5% of cases.
“In this study, we described 131 genetic disorders, but the actual number can go far beyond that,” he adds.
The study reveals that among the families diagnosed by Wes, autosomal recessive mutations were the most common (70.8%), largely resulting from cousin weddings. These were followed by dominant autosomal mutations (14.6%) observed in non-cousin unions. The hemizygotic mutations linked to the X represented 8.3%, while heterozygous recessive mutations composed were reported in 6.3% of the cases.
The occurrence of a compound heterozygoty indicates that the population of Pakhtun is increasingly saturated with recessive mutations, which can also appear in non -channeling marriages.
The registered families were classified as main groups: skin disorders (19.1%), vision -related disorders (18.4%), hearing disorders (9.6%, including syndromic and non -syndromic cases), neurological disorders (37.7%) and skeletal disorders (25.4 percent). Within the neurological group, distribution included intellectual disability (16%), physical handicaps (8.8%), epilepsy (5.4%) and muscle dystrophies (3.2%).
Dr. Zaman stressed that the government’s lack of attention on this issue is mainly the reason why the disease cannot be diagnosed locally, as there are no available diagnostic facilities.
He shared that the diagnosis of these diseases abroad is very expensive, adding that if the government provides WES facilities to local medical universities and research centers, this could be done at a lower cost without sending human samples to developed countries for screening.
According to Dr. Abbas Ali Khan, a BCHM pediatrician, around 300 patients with thalassemia are recorded in the establishment, where children such as Muhammad Aban receive free medications, screening, as well as blood transfusions according to their needs.
“On a daily basis, two to three patients with thalassemia are admitted in the neighborhood with complications, while in OPD, around 50% of patients visit us to thalassemia, which shows how serious the situation is,” he said.
Dr. Khan added that most patients with thalassemia die at an early age, while some reach up to 14 years old but with health complications.
The Khyber-Pakhtunkhwa Assembly adopted the 2009 Preventive Health Law, which makes screening tests for hepatitis-C and prenuptial thalassemia compulsory for the bride and groom, whose results would be obtained by the Nikah or the marriage registrar.
However, according to Dr. Abbas, the law is not fully implemented and the required tests are often not carried out on each side.
“The implementation of the law is very important,” he said. “As in the case of thalassemia, the government should do screening tests for other mandatory genetic or orphan diseases before marriage in order to protect the future of our future generations.”
For families like those of Aneela Bibi, the fight against thalassemia and other hereditary disorders is not only a medical challenge but also a social challenge – shaped by tradition, lack of awareness and gaps in public health policy. Without the widespread implementation of prenuptial screening, investment in local diagnostic facilities and coherent public education, the avoidable suffering cycle will continue. However, with a timely action, the next generation could be spared the test which is now endured by children like Muhammad Aban.
Abdur Razzaq is a multimedia journalist based in Peshawar. Il tweete @theabdurrazzaq
All the facts and information are the sole responsibility of the writer
