Inherited disorder of hemoglobin synthesis characterized by reduced or absent one or more globin chasin of Hb.

Types: Alpha Thalassemia and Beta Thalassemia

  • Weakness
  • Fatigue
  • Slow Growth
  • Dark Urine
  • Facial bone deformities
  • Abdominal Swelling

Family history of Thalesimia. It is autosomal recessive diseases.

  • Genetic counseling of couple want to have children
  • If genee present or currier of gene then arrested reproductive tests diagnosis is done which screens embryo in its early stages for mutations and then implanted with IVF.

How is it diagnosed?

  • By sign & symptoms.
  • CBC & Hb is reduced.
  • Peripheral blood film hypo chronic & Microcytosis
  • MCV less than 75 fl, ROW less than 14%
  • Retialocyte went se
  • DNA analysis to look for mutation gene
  • Parental testing Chorionic viler sampling ammiocan tesis.

How is it treated?

  • Mild Thalassemia: No meal for treatment.
  • Most to sever halassemia: Frequent blood transfusion.
  • Chelation therapy: To remove excess iron from blood. Fe build up due to regular transfusion.
  • Stem cell transplant: If eliminate life-long blood transfusion & drugs.

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