Thalassemia: The Hidden Burden in Pakistan
By: CureQuest and Medsearch Pakistan
INTRODUCTION
Get to know Ayesha*, a 15 -year-old girl from rural Pakistan, fighting thalassemia major at the Sundas Foundation,Lahore Pakistan. She needs frequent blood transfusions every few weeks and visits hospitals often to control her health condition. Ayesha* frequently skips school and finds it hard to cope with normal school-age tasks despite her strength and bravery. There are emotional and financial challenges her family has to deal with, covering the treatment expenses along with its burden on the family due to her chronic illness. Even though she is receiving treatment currently, a thought can't get past her mind
“What if there will not be enough blood for me?”
Sundas foundation was founded in 1998 by Munnoo Bhai to improve the health and well-being of children affected by thalassemia, hemophilia, and other blood disorders. Though Sundas Foundation provides free treatment and transfusion services, they rely on donations and volunteer work to keep their services running.
Ayeshas* story is one of the thousands of kids suffering from this disease.Thalassemia is not only a medical problem but a profoundly touching aspect of life, education, and emotional state of patients, their families, and the community at large.
SCIENTIFIC BACKROUND
Thalassemia is a hereditary blood disease where the body synthesizes an un-natural type or inadequate quantity of hemoglobin, the protein of red blood cells that carries oxygen to body tissues. The low levels of hemoglobin lead to decreased oxygen supply that may lead to fatigue, weakness among other severe complications.
There are 2 types of Thalassemia- Major and Minor.
Thalassemia Major is also referred to as Cooley anemia, and this is a serious form that occurs at a tender age. Patients should use life long and frequent blood transfusion and be administered routine medical attention to avoid the complications associated with iron overload, organ damage, bone deformity, and retarded growth. Thalassemia major is potentially dangerous to life without appropriate management.
Thalassemia Minor (Carrier): When there is one defective gene, people carry it with mild or no symptoms. Nevertheless, carriers may transfer the gene to their offspring and therefore this may lead to thalassemia major when both parents have the disease gene.
Symptoms
Patients may experience:
Fatigue, weakness, and shortness of breath
Pale or yellow-tinted skin
Bone deformities (especially facial and skull)
Enlarged spleen (splenomegaly)
Delayed growth or puberty
In severe cases, untreated thalassemia can cause heart failure or endocrine disorders.
Genetic Inheritance
Thalassemia is an autosomal recessive inheritance. This implies that the two parents should have the defective gene in order to ensure that their child develops thalassemia major. Carriers can be healthy, but their contribution towards the transmission of the gene is vital in the occurrence of the disorder. Genetic counseling and family testing are necessary in preventing serious cases to curb the effects of the disease on the communities.
LOCAL REVELANCE: PAKISTAN
According to Dr. Haider, Medical Officer at Aero Hospital AWC, thalassemia remains one of the most common inherited disorders in Pakistan.
“Around 2–3% of the population is affected, while the carrier rate is estimated between 5–7%. Every year, nearly 5,000 to 9,000 babies are born with thalassemia.”
These numbers represent more than statistics , they represent families like Ayesha’s*, caught in a generational cycle of suffering.
Dr. Haider highlighted a major cause:
“Consanguineous marriages ,marriages within the family — are one of the reasons this disease continues to prevail. They shorten the gene pool and make genetic disorders like thalassemia more likely.”
In rural communities, knowledge about carrier status is extremely low. Many parents don’t know they are carriers until after their first affected child is born.
As a widowed mother of a 17 year old girl shared:
“We didn’t know cousin marriages would cause such complications. Our grandparents encouraged them for generations. We only found out after our child was born.”
There are many challenges for not only patients , but their caregivers, doctors and hospitals as well.
Limited awareness: Many families confuse thalassemia with iron-deficiency anemia.
Financial strain: Families often face unbearable costs for transfusions, travel, and medication.
Stigma and isolation: Caregivers report being blamed for their child’s condition and shunned in social gatherings.
Blood shortages: Rural hospitals frequently run out of blood supplies, forcing families to buy blood privately, often untested and unsafe.
HUMAN DATA INTEGRATION
Our volunteers conducted a 35 minute interview with the widowed mother of a girl named Layla*She is a 17 year old girl suffering from thalassemia.The interview captures the silent suffering of countless caregivers:
Emotional distress: “Every time the doctor brings her test results, I get this sudden feeling that something bad will happen.”
Physical strain: Long travel, sleepless nights, and malnutrition cause chronic pain and headaches.
Social stigma: “People ask me why she isn’t getting better and blame me for not taking care of her.”
Anxiety about the future: “I worry every day — who will marry her? Who will care for her when I’m gone?”
Despite these hardships, her resilience stands out:
“She deserves to see hope, even if I can’t always feel it myself.”
The volunteers then got a clear medical framework from Dr. Haider to Layla's* story.
“Children with thalassemia major are usually diagnosed within the first few years of life. They present with weakness, poor growth, and bone deformities like frontal bossing. I’ve seen patients whose spleens were larger than their stomachs.”
He emphasized the importance of early diagnosis and prevention:
“If anemia persists despite normal iron levels, hemoglobin electrophoresis should be performed. Prenatal testing through chorionic villus sampling or amniocentesis can detect thalassemia early — and in confirmed cases, abortion is legally permitted.”
On treatment:
“Regular transfusions are life-saving but lead to iron overload, which must be controlled with iron chelators. The only cure is a bone marrow transplant — when a compatible donor is available, it can completely change a patient’s life.”
Dr. Haider ended with a reminder:
“Thalassemia isn’t contagious. It should never be treated as a taboo. With proper treatment and compassion, patients can live fulfilling lives. A simple test before marriage can save generations.”
SOLUTIONS AND NEXT STEP
The prevention of thalassemia in Pakistan needs a complex strategy of prevention of this disease involving the involvement of the population, treatment, and community:
Public Awareness Campaigns: Conduct educational programs to educate societies about thalassemia, its mode of inheritance and the role of carrier screening. This can be achieved by building awareness to create less stigma and motivate families to undergo early testing.
Premarital Screening Programs: Implement mandatory or voluntary screening of genetic premarital screening especially in high-risk families. Prior diagnosis of carriers prior to marriage can be used to avert birth of thalassemia major children.
Safe Blood Donation systems: Enhance the blood donation system so that patients get safe, screened blood so that they can be transfused with blood that is safe without getting infected with infections, like hepatitis or HIV.
Family Support Groups: Form networks that would offer emotional and financial support to families with thalassemia patients. Quality of life can be significantly enhanced by counseling services, community support and treatment funding.
Stimulate Research and Policy Interest: Promote further research on rare genetic conditions and policies that may embed thalassemia treatment in national health care. It involves increased access to treatment, enhanced diagnostic equipment and sustainable funding of healthcare.
These solutions are able to provide significant relief to the burden of the thalassemia condition by the individual and family as well as the community at large in Pakistan by combining education and prevention and systemic support.
CLOSING CALL
These stories are both a cry for help and a message of resilience.
Behind every transfusion and every sleepless night lies a family’s love and fight for survival. If communities unite to raise awareness, encourage testing, and support those affected , we can end the silent inheritance of pain that thalassemia brings.
Because, as Dr. Haider said:
“A simple test before marriage can save generations.”
-ENDING NOTES-
This was a collab between Medsearch Pakistan Branch by Arwa Khan and CureQuest Intl by Ketaki Paranjape
Thank you to our team of volunteers at CureQuest for helping in the making of this project: Ketaki Paranjape , Saanvi Talwar
Thank you to the team of volunteers at Medsearch Pakistan for helping in the making of this project: Arwa Khan, Abeer Rumair, Fatima Tuz Zahra, Ayesha Saleem
The * On top of names are pseudonyms to maintain anonymity.
Thank you to Dr Haider from Aero Hospital AWC, Sundas Foundation and everyone who contributed live data for this project,