ABOUT THALASSEMIA
About Thalassemia
Help us fight Thalassemia
Understanding Thalassemia
Thalassemia is a genetic blood disorder where the body cannot produce enough healthy red blood cells or haemoglobin, the protein responsible for carrying oxygen throughout the body. This leads to anaemia, which can cause symptoms such as:
- Fatigue and low energy
- Shortness of breath
- Pale or yellowish skin (jaundice)
- Fast or irregular heartbeat
- Enlarged spleen and liver in severe cases
Children born with beta thalassemia major, the most severe form, typically show symptoms within the first few months after birth. Less severe forms may present later or remain asymptomatic, especially in carriers who usually live normal lives but can pass the gene to their children.
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Health Complications Associated with Thalassemia
While regular treatment can control many issues, thalassemia can lead to serious health complications:
- Chronic anaemia: Lifelong low haemoglobin necessitates frequent blood transfusions to maintain oxygen delivery.
- Iron overload: Frequent transfusions cause excess iron accumulation, risking damage to vital organs such as the heart (cardiomyopathy), liver (cirrhosis), and endocrine glands causing diabetes, hormone imbalances, delayed puberty, thyroid issues, and infertility.
- Bone deformities and growth delays: Enlarged bone marrow can cause unusual facial features (prominent forehead, cheeks), osteoporosis, and stunted growth.
- Gallstones: Common in thalassemia major, sometimes requiring surgery.
- Increased infection risk: Especially in those with enlarged or removed spleens.
Global and Pakistan-Specific Thalassemia Statistics
Globally, 80-90 million people are carriers of beta thalassemia, representing about 1.5% of the world’s population.
- In Pakistan, carrier frequency is about 5.5%, accounting for approximately 13.9 million carriers.
- Annually, about more than 4,300 children are born with thalassemia major in Pakistan (about 17 births per day) with more than 30,000 registered patients and an estimated 13.9 Million currently living with the disease nationwide.
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The high incidence is linked to consanguineous marriages with both partners being carriers of thalessemia trait: roughly 60% first cousin, 15% second cousin, and 15% in the same community, increasing the risk of inheriting the disease,
Genetic Risk and Inheritance Pattern
Thalassemia is inherited i an autosomal recessive manner
Chance child will have thalassemia major
Chance child will be a carrier
Chance child will be healty
Carrier do not typically show symptoms but are crucial in disease transmission.
Prevention: Screening, Counselling, and Awareness
Thalassemia is largely preventable through:
- Carrier screening: Simple, low-cost blood tests identify carriers before childbirth or before marriage.
- Genetic counselling: Educates carrier couples about reproductive risks and available options.
- Prenatal diagnosis: Early foetal testing to detect affected pregnancies, allowing informed decisions.
- Public awareness campaigns: Use multimedia, school programs, and community outreach to reduce stigma and increase knowledge.
- Policy integration: Governments must integrate thalassemia screening and education into public health services and support trained health workers.
The Challenge of Treatment
In wealthier countries, timely and proper treatment enables people with thalassemia to live longer, healthier lives. In many developing countries, access to regular blood transfusions and chelation therapy is limited, imposing a heavy emotional, social, and financial toll on families and health systems. Additional support services, including bone marrow transplantation (the only curative treatment) and emerging gene therapies, remain out of reach for many.