Published September 21, 2025
Seven -year -old Muhammad Aban from a poor family and currently admitted to Benazir Children’s Hospital in Marran (BCHM) longing to play with other children, but is too weak due to complications from thalassemia.
Diagnosed when he was only 11 months old, he needs two to three blood transfers each week to survive. His mother, Aneela Bibi, says he has spent much of his childhood in hospitals undergone treatment. Aban’s 11-year-old older brother also suffers from the same disease and has only survived because of ordinary blood donations, she shares.
“First we wanted to ask relatives and neighbors, and then my husband’s friends would donate blood to our children,” she says. “But later they became reluctant to visit hospitals and donate blood. Although the hospital now delivers free blood, the treatment of other complications caused by thalassemia is quite difficult for us.”
“When my sons face a lack of blood, they start vomiting, have digestive problems and can’t eat properly, so we have to hurry to the hospital for a transfusion,” she explains. “It always becomes a difficult time, especially since we are a poor family.”
Aban’s parents are cousins and when they got married, no marital genetic screening was done, which is crucial to identifying thalassemia and other genetic disorders. “Our first baby girl is healthy, but later these two sons were diagnosed with thalassemia,” says Aneela Bibi. “In our society there is no concept of such tests before marriage; that is why we did not consider screening before marriage. This is also the first thalassemia -cases in our family.”
Hamza Foundation, a Peshawar-based Welfare Hospital and Thalassemia Center, reports that about 25,000 people in Khyber-Pakhtunkhwa (KP) suffer from thalassemia, with 1,500 registered for the center treatment. Nearly 6,000 new cases emerge every year, and doctors affiliated with the hospital say that 80 to 90 percent 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 Marran and the government Postgraduate College Dargai, Malakand reveals that in addition to thalassemia there are about 131 rare genetic disorders, also known as orphans, 71 percent, of which is associated with consent.
Dr. Qaiser Zaman, a human geneticist who specialized in rare genetic disorders and assistant professor of 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 consent 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 transferred to their children, they occur in the form of illness in their bodies. The interest rate for orphans diseases in Saudi Arabia is recorded at 83 percent, while in the Middle East it is 50 percent because of the general practice of cousin marriages in Muslim communities like these.”
He mentioned that in the study a total of 1,374 men and females from 272 families over KP, which are suspected of having rare genetic disorders, enrolled, added the index patient from each family using the entire Exome sequencing (WES), which successfully diagnosed 69.5 percent of cases.
“In this study we have described 131 genetic disorders, but the actual number can 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 percent), largely as a result of cousin marriages. These were followed by autosomal dominant mutations (14.6 percent) observed in non-cousine unions. X-bound hemizygot mutations accounted for 8.3 percent, while compound heterozygous recessive mutations were reported in 6.3 percent of cases.
The occurrence of composed heterozygosity indicates that the Pakhtun population is becoming more and more saturated with recessive mutations, which can also occur in non-consentguine arbitrary marriages.
The enrolled families were further classified in main groups: skin disorders (19.1 percent), visual related disorders (18.4 percent), hearing reduction (9.6 percent, including both syndromic and non-syndromic cases), neurological disorders (37.7 percent) and skeleton tris (25.4 percent). Within the neurological group, the distribution included intellectual disabilities (16 percent), physical disabilities (8.8 percent), epilepsy (5.4 percent) and muscular dystrophies (3.2 percent).
Dr. Zaman pointed out that the government’s lack of attention to this case 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 supplies WES facilities to local medical universities and research centers, it could be made at a lower price without sending human tests to developed countries for screening.
According to Dr. Abbas Ali Khan, a pediatrician at BCHM, is about 300 Thalassemia patients registered at the plant, where children like Muhammad Aban receive free medicine, screening and blood transfusions according to their needs.
“On a daily basis, two to three thalassemia patients are recorded in the ward with complications, while about 50 percent of patients visit us with thalassemia, which shows how serious the situation is,” he says.
Dr. Khan added that most Thalassemia patients die at an early age, while some reach up to 14 years, but with health complications.
The Khyber-Pakhtunkhwa assembly adopted the Preventive Health Act 2009, doing so before marital hepatitis-C and Thalassemia screening test mandatory for both bride and groom whose results would be achieved by Nikah or marriage registration.
According to Dr. However, ABBAS is not fully implemented, and the required tests are often not performed by any of the pages.
“Implementation of the law is very important,” he emphasizes. “As in the case of thalassemia, the government should perform screening tests for other genetic or orphan diseases that are mandatory before marriage to protect our future generations.”
For families like Aneela Bibi’s, the fight against thalassemia and other hereditary disorders is not only a medical challenge, but also a social struggle – shaped by tradition, lack of attention and gaps in public health policy. Without widespread implementation of pre -marital screening, investments in local diagnostic facilities and consistent public education, the cycle of preventable disorder continues. Yet, with timely action, the next generation could be spared from the ordeal now endured by children like Muhammad Aban.
Abdur Razzaq is a Peshawar-based multimedia journalist. He tweets @Theabdurrazzaq
All facts and information is the author’s sole responsibility
