An autosomal recessive hemoglobinopathy caused by mutations in HBA (alpha-thalassemia) or HBB (beta-thalassemia) genes, reducing hemoglobin production. Beta-thalassemia major requires lifelong transfusions. Carrier frequency up to 20% in some Mediterranean and Asian populations.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Variable by type. Thalassemia minor (trait): normal life expectancy, mild anemia. Thalassemia intermedia: variable, may require occasional transfusions, life expectancy 50-60 years. Thalassemia major: transfusions required every 2-4 weeks, life expectancy 40-50 years with modern chelation. Without transfusions, death in childhood. Iron overload is major complication. Bone marrow transplant curative in 80-90% with matched sibling donor. Gene therapy trials promising. Cardiac iron overload leading cause of death.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning