Overview 

Thalassemia is an inherited blood disorder that affects the body’s ability to produce healthy hemoglobin, the protein in red blood cells responsible for carrying oxygen.

People with thalassemia have fewer healthy red blood cells, leading to anemia and reduced oxygen supply to the body. The severity of the disease varies from mild to severe, and some patients require lifelong treatment.

Early diagnosis and proper medical management help improve quality of life and long-term outcomes.

Types of Thalassemia

• Alpha Thalassemia: Caused by reduced or absent alpha-globin production
• Beta Thalassemia: Caused by reduced or absent beta-globin production
• Thalassemia Minor (Trait): Mild form, often asymptomatic
• Thalassemia Intermedia: Moderate severity
• Thalassemia Major (Cooley’s Anemia): Severe form requiring regular treatment

Symptoms of Thalassemia

• Fatigue and weakness
• Pale or yellowish skin (jaundice)
• Shortness of breath
• Slow growth in children
• Bone deformities (especially facial bones)
• Enlarged spleen
• Dark-colored urine

Causes of Thalassemia

• Genetic mutation inherited from parents
• Defective genes affecting hemoglobin production
• Passed through autosomal recessive inheritance

Complications of Thalassemia

• Severe anemia
• Iron overload due to repeated blood transfusions
• Heart and liver complications
• Bone deformities
• Growth delay in children
• Increased risk of infections

Risk Factors of Thalassemia

• Family history of thalassemia
• Parents who are carriers of the gene
• Higher prevalence in Mediterranean, Middle Eastern, South Asian, and African populations

Prevention of Thalassemia

• Genetic counseling before marriage or pregnancy
• Carrier screening tests
• Prenatal diagnosis in high-risk pregnancies
• Awareness and early testing