Posted on September 21, 2025
Muhammad Aban, seven years old, of a poor family and currently entered the Benazir Children’s Hospital in Mardan (BCHM), longs to play with other children, but is too weak due to the complications of talasmia.
Diagnosed when I was only 11 months old, you need two or three blood transfusions every week to survive. His mother, Annela Bibi, says he has spent much of his childhood in hospitals receiving treatment. ABAN’s 11 -year -old older brother also suffers from the same disease and has survived only for regular blood donations, he shares.
“First, we would ask relatives and neighbors, 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 talaasemia is quite difficult for us.”
“When my children face a shortage of blood, they begin to vomit, they have digestion problems and cannot eat properly, so we have to hurry them to the hospital for a transfusion,” he explains. “It always becomes a difficult time, especially because we are a poor family.”
ABAN’s parents are cousins, and when they got married, no pre -ratrimonial genetic detection was not performed, which is vital to identify talasmia and other genetic disorders. “Our first girl is healthy, but later these two children were diagnosed with tasty,” says Annela Bibi. “In our society, there is no concept of such tests before marriage; so we do not consider detection before marriage. In addition, these are the first cases of talasmia in our family.”
The Hamza Foundation, a Welfare and Center for Talasiamia based in Peshawar, reports that around 25,000 people in Khyber-Pakhtunkhwa (KP) suffer from talaasemia, with 1,500 recorded to receive treatment with the center. Almost 6,000 new cases arise every year and doctors affiliated with the hospital say that from 80 to 90 percent they occur in families with marriages of cousins, a common practice in the province.
A recent research study by researchers from Islamia College Peshawar, Abdul Wali Khan Mardan and the Dargai Government Postgraduate Dargai, Malakand, reveals that, in addition to talasyemia, there are around 131 rare genetic disorders, also known as orphan diseases, 71 percent of which are associated with Songuinos marriages.
Dr. Qaiser Zaman, a human geneticist specialized in rare genetic disorders and assistant professor at the Government’s Postgraduate University, Dargai, Malakand, shared that talaasemia is more widely known among the public compared to other rare genetic disorders, most of which are associated with consanguineous marriages.
“About 71 percent of rare genetic disorders are caused by autosomal recessive mutations,” he explains. “These are diseases that remain hidden in parents, but when they are transmitted to their children, they appear in the form of illness in their bodies. The rate of orphan diseases in Saudi Arabia is recorded in 83 percent, while in the Middle East it is 50 percent, 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 families of KP suspected of having rare genetic disorders were registered, and added that the patient’s index patient was selected was selected using entire exoma sequencing (Wes), which successfully diagnosed 69.5 percent of the cases.
“In this study, we have described 131 genetic disorders, but the real number can go far beyond this,” he adds.
The study reveals that among families diagnosed through We, autosomal recessive mutations were the most common (70.8 percent), largely as a result of cousin marriages. These were followed by dominant autosomal mutations (14.6 percent) observed in non -cubic unions. Hemiziguas mutations linked to X represented 8.3 percent, while compound heterozygous recessive mutations were informed in 6.3 percent of cases.
The appearance of compound heterozygosity indicates that the population of Pakhtun is increasingly saturated with recessive mutations, which can also appear in non -sensible marriages.
Registered families were classified additionally into main groups: skin disorders (19.1 percent), vision -related disorders (18.4 percent), auditory disability (9.6 percent, including syndromic and non -syndromic cases), neurological disorders (37.7 percent) and skeletal disorders (25.4 percent). Within the neurological group, the distribution included intellectual disability (16 percent), physical disabilities (8.8 percent), epilepsy (5.4 percent) and muscle dystrophies (3.2 percent).
Dr. Zaman pointed out that the lack of government’s attention to this issue is mainly the reason why the disease cannot be locally diagnosed, since there are no available diagnostic facilities.
He shared that diagnosing these diseases abroad is very expensive, and added that if the government provides WES facilities to medical universities and local research centers, it could be done at a lower cost without sending human samples to developed countries for detection.
According to Dr. Abbas Ali Khan, a pediatrician of BCHM, around 300 talasmia patients are registered in the installation, where children such as Muhammad Aban receive free medications, detection, as well as blood transfusions according to their needs.
“Daily, two or three patients with talasmia enter the room with complications, while in the OPD about 50 percent of patients visit us with talaasemia, which shows how serious the situation is,” he says.
Dr. Khan added that the majority of talasmia patients die at an early age, while some reach up to 14 years but with health complications.
The Khyber-Pakhtunkhwa Assembly approved the 2009 Preventive Health Law, which makes pre-absence of pre -ratrimonial detection tests of hepatitis-C and talaasemia mandatory for the bride and the boyfriend, whose results would be obtained by the Nikah or marriage registrar.
However, according to Dr. Abbas, the law is not completely implemented, and the required tests are often not carried out by any of the parties.
“The implementation of the law is very important,” he emphasizes. “As in the case of talaasemia, the government should perform detection tests for other mandatory genetic or orphan diseases before marriage to safeguard the future of our next generations.”
For families such as Annela Bibi, the fight against talasia and other inherited disorders is not only a medical challenge but also social, made up of tradition, lack of consciousness and gaps in public health policy. Without a generalized implementation of premarital detection, investment in local diagnostic facilities and consistent public education, the preventable suffering cycle will continue. However, with a timely action, the next generation could save the terrible experience that is now supported by children such as Muhammad Aban.
Abdur Razzaq is a multimedia journalist based in Peshawar. He tweet @theabdurazzaq
All facts and information are the exclusive responsibility of the writer
