Thalassemia

What is Thalassemia?

• Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin, the protein that carries oxygen in red blood cells.
• Reduced hemoglobin leads to anemia, causing fatigue and weakness.
• Severity ranges from mild (carrier state) to severe, lifelong disease requiring treatment.

Types of Thalassemia

• Alpha Thalassemia
  • Caused by defects or deletions in alpha-globin genes
  • Severity depends on how many genes are affected
• Beta Thalassemia
  • Caused by mutations in beta-globin genes
  • Includes:
    • Thalassemia minor (trait) – mild or no symptoms
    • Thalassemia major – severe, requires lifelong treatment

Symptoms of Thalassemia

• Fatigue and weakness
• Pale or yellowish skin (jaundice)
• Slow growth in children
• Bone deformities (especially facial bones)
• Enlarged spleen
• Dark urine
• Poor appetite

Complications of Thalassemia

• Iron overload (from disease or repeated transfusions)
• Heart disease
• Liver disease
• Endocrine problems
• Bone abnormalities
• Enlarged spleen
• Increased infection risk

Diagnosis of Thalassemia

• Complete Blood Count (CBC)
• Hemoglobin analysis
• Genetic testing
• Prenatal testing (in high-risk pregnancies)

Treatment of Thalassemia

• Regular blood transfusions
• Iron chelation therapy (to remove excess iron)
• Folic acid supplements
• Bone marrow / stem cell transplant (potential cure in some cases)