About Thalassemia

• It is a heterogeneous group of blood disorders affecting the hemoglobin genes and resulting in ineffective erythropoiesis.
• The decreased production of hemoglobin results in anemia at an early age and frequent blood transfusions are required to keep up the hemoglobin levels.
• Two main types of thalassemia: alpha thalassemia and beta thalassemia, named after defects in respective globin chains.
• Alpha Thalassemia:
  • Inherited genes make alpha globin protein chains.
  • One defective gene (alpha thalassemia minima): No symptoms.
  • Two defective genes (alpha thalassemia minor): Mild symptoms, if any.
  • Three defective genes (Hemoglobin H disease): Moderate to severe symptoms.
  • Four defective genes (Hydrops fetalis with Hemoglobin Barts): Severe, often fatal; survivors require lifelong transfusions.
• Beta Thalassemia:
  • Inherited genes make beta globin protein chains.
  • One defective gene (beta thalassemia minor): Mild symptoms.
  • Two defective genes:
    • Thalassemia intermedia: Moderate symptoms.
    • Beta thalassemia major (Cooley’s anemia): Severe symptoms, requiring frequent treatments.

Thalassemia a Genetic Blood Disorder