Lahore and Karachi, Pakistan — Abdul Hadi Nadir’s tiny body wears down quickly when the fever sets in. His skin turns yellow, he stops eating, and his mother, Rimsha Nadir, knows exactly what that means – it is time for more blood.

At a quiet but packed clinic in Lahore, Rimsha cradles her three-and-a-half-year-old son while sitting among other families with children.

Abdul Hadi is one of the youngest in the room. Around him, children sit quietly, some tethered to their IV drips and receiving blood. Nearby, a mother sits at the foot of her 12-year-old son’s reclining chair, gently massaging his leg.

Rimsha places her son on a chair beside her and hands him her mobile phone. The toddler is momentarily distracted by a video on what will be a long day of having to stay still.

Rimsha is awaiting the blood transfusion that will restore her son’s energy, if only for a few weeks.

“After he gets [the blood],” the 22-year-old says softly, “then he eats everything.”

It is a routine Rimsha knows well – monthly visits that stretch from morning until evening, and the emotional weight of watching her child teeter between sickness and survival.

At just nine months old, Abdul Hadi was diagnosed with beta thalassaemia major – the severest form of a genetic blood disorder that causes the body to produce abnormal haemoglobin, resulting in chronic anaemia. The condition requires blood transfusions – the only known treatment.

Rimsha had known about thalassaemia before her son’s diagnosis. Her husband’s nephew died of it at age nine. His parents were not able to bring him into the clinic for regular transfusions, and before he died, he required a new transfusion every three days.

Despite this, Rimsha clings to hope for her child’s future. “He will study, he will become a doctor, God willing,” she says in a soft voice.

In Pakistan, some 100,000 people are registered in hospitals as thalassaemia major patients, and more than 5,000 children are born with the disease each year, though there is no data on how many die from the disorder. But in a country where the average lifespan for a child born with the disease is just 10 years, families like Rimsha’s are caught in an endless cycle of securing regular blood transfusions.

Genetic disorder

Pakistan is part of the “thalassaemia belt” – an area with a high prevalence of the disease stretching across parts of Africa, the Mediterranean, the Middle East, the Indian subcontinent, Southeast Asia, Melanesia, and the Pacific Islands.

This high prevalence could be a genetic response to protect against malaria, according to researchers. The disorder is more common in regions where malaria is or was widespread.

Thalassaemia major is the most common genetic disorder in Pakistan, according to a European Journal of Human Genetics study in 2021.

Rimsha and her husband discovered they were carriers of the disease only after their son’s diagnosis. As carriers, they have the thalassaemia trait or thalassaemia minor, meaning they have a mutated gene on a chromosome inherited from their mother or father. Those with thalassaemia major have the mutation from both parents.

According to the Fatimid Foundation, a Pakistani NGO that tackles thalassaemia and other blood disorders through blood banks and treatment centres, the country’s estimated carrier rate is 5 to 7 percent. This translates to about 13 to 18 million carriers in the country of more than 251 million.

Carriers do not develop the disease and are usually asymptomatic, but can produce a child with thalassaemia major who would require blood transfusions for the rest of their life.

“If both parents are carriers, in every pregnancy there is a 25 percent chance that a child is born with thalassaemia major,” says Dr Haseeb Ahmad Malik, the medical director of the Noor Thalassemia Foundation, where Abdul Hadi and others receive free transfusions.

 

As he sits inside his sparsely furnished office, the doctor explains that a pregnancy between two carriers has a 25 percent chance of producing a baby with no mutated gene, while there is a 50 percent chance that the offspring will be a carrier of the disease.

Gathering the family to give blood

Malik walks through the long corridor where children receive their transfusions, many of them gazing silently ahead, greeting his young patients. He knows them all by name, and Abdul Hadi coos with laughter at the sight of him.

For Rimsha and her husband, the journey by car to the clinic takes half an hour. But for many of Malik’s patients who live in Lahore’s peripheral areas and travel on unreliable public transport, that trip can be long and exhausting. Most treatment centres in Pakistan are situated in big cities, limiting access for people in rural areas, says Malik.

Even for those with regular access to clinics, blood is often in short supply in Pakistan. Donations tend to decline significantly during the fasting month of Ramadan, extreme weather events, and crises such as the COVID-19 pandemic, the doctor explained.

Still, access has improved over the years.

One of the country’s first volunteer blood donation systems was established by the Fatimid Foundation in 1978.

“Before this, desperate people would sell their blood outside hospitals,” explains foundation chairman Moinuddin Haider, a retired Pakistan army general and former interior minister from 1999 to 2002.

Haider’s older brother, who was also in the army, had two sons with the disease.

“When he would come back from his army postings, he’d gather the family to ask for blood … and we used to wonder, what kind of disease is this that requires all of us to donate blood,” recounts Haider, speaking to Al Jazeera in Karachi.

Only one of those nephews is alive today at 40, he says. But, he adds, NGOs working to manage the disease have transformed lives in recent decades, where in the past many died in early childhood.

“Their lifespan has increased. They’re getting married now,” he explains, adding that his foundation encourages patients to continue to study and work and not feel limited by the disease. “We have come a long way.”

A future without dreams

Back at the Noor Foundation, it is after 2pm, and Muhammad Ahmad Dildar is waiting for his turn to receive the blood that keeps him alive.

The 22-year-old introduces himself with a toothy grin as he sits in Malik’s office.

For the last nine years, Muhammad has been coming to the clinic on his own. He says his parents – who are first cousins and carriers of the disease – instilled in him the discipline to do so.

Since Muhammad’s diagnosis at three months old, he has never missed an appointment.

His parents were punctual with giving him the medication he needed to remove excess iron from the blood transfusions to avoid organ damage.

“A lot of good effort was put in by him and his parents,” says Malik, adding that Muhammad’s parents also ask family members to donate blood when the clinic is in short supply.

Muhammad is among his “most compliant” patients, he says, explaining how a patient’s efforts are key to ensuring a longer life. But a lack of awareness or education prevents many in Pakistan from seeking adequate care, he says.

Muhammad comes to the clinic twice a month, making the 15-minute trip in the car he uses for work, driving for a local ride-hailing app.

He knows it is time for a visit when the symptoms reappear.

“My blood pressure gets low, I get a fever, I have back pain,” Muhammad explains, brushing his hair out of his eyes as he speaks. He pauses. “Life is very tough.”

He is the only one of five siblings with the disease. Without the transfusions, he is vulnerable to a range of infections, bouts of which have already left him bedridden for more than six months at a time and forced him to drop out of school in the ninth grade.

Muhammad is aware that he has already outlived the average lifespan of thalassaemia major patients in Pakistan.

His face darkens when he is asked about his future. “Sometimes I am very afraid,” he says, his voice cracking. “I feel like I can die at any time.”

He says he does not make any plans too far in the future, and is grateful he is still alive.

“I’ve never thought about any dreams for myself … nothing at all,” he says. “I’ll just keep getting my blood and keep living.”

Seeking a cure

Thirteen-year-old Mudassir Ali grew up a few hours north, in Pakistan’s third-largest city of Rawalpindi.

He was diagnosed with thalassaemia major when he was 16 months old.

“I couldn’t play like regular kids,” he recalls in a phone interview. “I would lose my breath more easily, get tired more easily.”

A photo of Mudassir as a toddler shows him hooked up to multiple cannulas, the sleeves of his fuzzy pink and yellow hooded sweatshirt rolled up for the plastic tubes that run from his wrists, chest and abdomen.

But he has not needed these devices for years – the teenager is among a small number of people in the country to be completely cured of thalassaemia through a bone marrow transplant.

While many transplants in Pakistan occur on thalassaemia patients, the number of operations remains low due to a lack of funding and resources, according to a 2023 study in the Journal of Transplantation by the Pakistan Bone Marrow Transplant Group.

In 2021, 118 transplant surgeries were carried out on thalassaemia patients, and 88 in 2022, the study found.

Mudassir was four years old when he received a transplant.

His father, Muhammad Naeem Anjum, resolved to get his son cured when he was diagnosed.

“I had one mission, to get my son better,” says the 44-year-old government employee.

The father of six spent years shuttling his son from doctor to doctor, as Mudassir underwent test after test.

Eventually, he learned about the transplant option – the only, if risky and costly, cure.

“I went to three doctors … they said there’s an 80 percent chance that the [transplant] could be successful,” Anjum recounts. “As he gets older – like 14, 15 years old – the chances [of success] would have reduced to 60 percent or less.”

According to Dr Syed Waqas Imam Bokhari, bone marrow transplant lead physician at the Shaukat Khanum Memorial Cancer Hospital and Research Centre in Lahore, these transplants are most successful in young children with thalassaemia as the risks increase with age.

The procedure involves replacing the body’s faulty blood-forming stem cells with healthy ones from a donor taken from the pelvic bone or bloodstream. The patient then undergoes myeloablation – where bone marrow is destroyed to make way for the new cells, often through chemotherapy, as in Mudassir’s case – before the donor cells are introduced into their bloodstream. These cells then find their way to the bone marrow and, if successful, produce new healthy blood cells.

‘He will get better’

But the procedure carries risks.

Infections are a potential complication. Then there is graft failure, which can happen in five to 10 percent of cases of patients below seven years of age, according to Bokhari. “The blood counts do not recover with the new cells and the older cells come back, or the blood counts recover, but then … they go down again,” he explains, adding that the likelihood of this happening also increases with age.

Another risk is graft-versus-host disease, where the new cells – part of a new immune system – “mount a reaction against the host”, Bokhari says. Graft rejection, meanwhile, is the inverse, where the patient’s immune system attacks the transplanted cells.

As the family continued to take Mudassir to the hospital, where they watched over him as he slept during his night-time transfusions, Anjum investigated the cost of the procedure.

In 2014, doctors in Karachi, where he travelled occasionally for work, quoted him 2.4 to 2.6 million rupees (approximately $23,000 to $25,000 at the time) for the procedure. Today, with the country’s economic downturn and the plummeting value of the rupee, the cost is closer to 5 to 7 million rupees (about $17,600 to $24,700), according to Bokhari.

These costs are out of reach for most in Pakistan, where the gross domestic product (GDP) per capita is less than $1,500, according to 2024 World Bank figures.

But a doctor suggested Anjum look into the procedure at a military hospital in Rawalpindi, where the cost was slightly lower, and as a government employee, his work would cover 80 percent of the cost.

Anjum remained determined, even as relatives and friends with children with the disease discouraged him, calling it a financial drain and insisting children like Mudassir never fully recover.

“You’re wasting your money,” he recalls them telling him.

“I said, ‘God willing, he will get better’,” Anjum says.

The next step, then, was to find a donor.

A perfect match

The biggest risk in transplantation is graft rejection, says Bokhari.

“Genetically, there’s only one instance where one person’s immune system can be almost exactly the same as another person – that is a syngeneic twin … an identical twin,” he explains.

In transplant procedures, then, finding a donor with a closely-matched human leukocyte antigen (HLA) gene – critical for immune system regulation – is essential, says Bokhari. Siblings are often the most compatible match, he adds.

“For each sibling, there’s a one in four chance that we’ll find a fully matched donor,” says the physician.

In instances where a patient has no siblings or when no sibling is a match, finding an unrelated donor who is a match is possible. But in Pakistan, which does not have large and well-established donor registries, it is almost impossible, says Bokhari.

“In the West, there are huge registries,” he adds.

Two of Mudassir’s siblings turned out to be good matches. One of them, his then-nine-year-old brother Musaddiq, was a 100 percent match.

Mudassir received his bone marrow transplant in April 2016. From the first day after his operation, he began to show improvement. Nearly a decade later, Mudassir has made a full recovery. He has not needed a single blood transfusion since the transplant.

Anjum’s voice catches as he remembers a moment, not long after the operation, when Musaddiq told him, “Now that our brother is better, he can play with us.”

Today, Mudassir hopes to become a doctor one day to give other children the same second chance at life. “Others should be able to get the surgery too,” he says.

Burden on families

But for the thousands of children and young people across Pakistan like Abdul Hadi and Muhammad, being cured of thalassaemia major through a bone marrow transplant is simply out of reach.

Some charity-run hospitals and organisations offer free bone marrow transplants, but the number they can perform each year is limited by available funding, Bokhari explains.

At his own donor-supported hospital, for instance, 71 bone marrow transplants were carried out in 2024, and just one of those was for a patient with thalassaemia major.

Furthermore, the doctor points out, the 12 transplant centres in the country are not enough to meet the needs of transplant patients.

“So it’s not matching … at all,” he says.

Malik of the Noor Foundation believes there should be a national campaign to push for premarital screenings – done via blood tests – among couples to test for the disease-carrying gene.

This could help couples make informed decisions – whether that means choosing not to marry another carrier or planning ahead for the possibility of having a child with thalassaemia major. There are some screening programmes in the country’s four provinces, but Malik says many times, if a couple finds they are both carriers of the disease, it does not impact their decision to marry or have children, particularly when it is an arranged marriage.

“Family bonds are very strong here – if a marriage is fixed … they won’t break their commitment,” he explains.

For now, parents of the thousands of children with thalassaemia major across Pakistan shoulder the burden of managing the disease as they seek out blood transfusions to keep their children alive.

In Lahore, Rimsha will continue to bring her toddler to the Noor clinic and hope that the next transfusion will pass without complications.