Understanding thalassemia and its impact

By Rida Kabeer and Dr. Qamar Un Nisa
Thalassemia, a genetic disorder that impairs hemoglobin synthesis, resulting in anemia, fatigue, and weakened immunity, affects some 5000 children every year in Pakistan.

The severe form, thalassemia major, requires lifelong blood transfusions, while thalassemia minor is a milder form with few symptoms.

Pakistan has a high incidence of β-thalassemia, with around 5-7pc of the population carrying the trait.

Over 10 million people are affected, with an estimated 5,000 new cases of β-thalassemia major detected each year. Infants born with thalassemia major usually exhibit symptoms within the first two years of life, some showing indications at birth and others developing them later in childhood.

Thalassemia can have long-term health effects, including anemia, organ damage, skeletal deformities, and cardiovascular complications.

Early identification and treatment can help control symptoms and prevent complications in beta-thalassemia major patients.

For severe cases, bone marrow transplantation may offer a cure. Prenatal testing and genetic counseling also enable families to better identify and manage risks. With adequate treatment, individuals with thalassemia can lead full lives.