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Thalassemia

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  • 1. THALASSEMIA Presented by: Livson Thomas CON, CMC Ludhiana.
  • 2. Prevalence of Thalassemia
  • 3. DEFINITION Thalassemia is a group of inherited/ hereditary disorders characterized by reduced or absent amounts of hemoglobin or synthesis of hemoglobin.
  • 4. TWO BASIC GROUPS OF THALASSEMIADISORDER Alpha Thalassemia Beta Thalassemia: A person with this disorder has two mutated genes
  • 5. TYPES OF BETA THALASSEMIA Beta thalassemia minor– the mildest form of beta thalassemia. Thalassemia trait - heterozygous disorder resulting in mild hypochromic, microcytic hemolytic anemia. Beta thalassemia intermedia - Severity lies between the minor and major. Beta thalassemia major - homozygous disorder resulting in severe transfusion-dependent hemolytic anemia. 6
  • 6. CLINICAL FEATURES ANAEMIA - Pallor -Unexplained Fever -Poor feeding -Enlarged spleen and liver
  • 7. WITH PROGRESSIVE ANAEMIA Anorexia Headache Restlessness Decreased activity tolerance
  • 8. OTHER FEATURES Small stature Delayed sexual maturation Bronze complexion Failure to thrive, gross motor delay
  • 9. BONE CHANGES Enlarged head Prominent frontal and parietal bone Flat and depressed bridge of nose Enlarged maxilla Generalized skeletal osteoporosis
  • 10. HB ELECTROPHORESISA2 E A H Bart’s <10% = A2 F >10% = E
  • 11. MEDICAL MANAGEMENT BLOOD TRANSFUSION IRON CHELATION THERAPY FOLIC ACID SUPPLEMENTATION SPLEENECTOMY BONE MARROW TRANSPLANT
  • 12. BONE MARROW TRANSPLANT
  • 13. TYPES OF BMT1. Autologous BMT2. Allogenic BMT3. Umbilical Cord BMT