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Thalassemia

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  • 1. Dr / Hytham NafadyThalassemia
  • 2. it is a genetic disorder ofhemoglobin synthesis in whichthere is defective synthesis ofalpha or beta chains.
  • 3. ThalassemiaAlpha Thalassemia Beta thalassemiaDefective synthesis ofalpha chainDefective synthesis ofBeta chain
  • 4. ThalassemiaThalassemia major Thalassemia minorHomozygossever formHeterozygosminor form
  • 5. Pathogenesis of thalassemiaineffective erythropoiesis
  • 6. C.PHemolytic anemia:Anemia.Jaundice.Hepatosplenomegally due to extramedullaryhemopoiesis.Rodent facies (prominent malar eminences &malalignement of the teeth) due to facial bonedeformity 2ry to bone marrow hyperplasia.
  • 7. Bone marrow hyperplasiaLong bones:Diffuse osteoporosis,Medullary expansion,Cortical thinning,Coarse trabeculations (reactive sclerosis of the 2ry bonetrabeculae after destruction of the primary trabeculae), &Enlargement of the nutrient foramina.
  • 8. Bone marrow hyperplasiaSkull:Widening of the diploic space.Thinning of the inner & outer table (complete resorption of the outertable may occur).Prominent 2ry trabeculae (hair on end appearance).The occipital bone is spared as it lacks hemopoietic bone marrow.
  • 9. Hair on end appearance
  • 10. Facial bones:Hypopneumatization of the frontal, maxillary & sphenoidsinuses (which are filled with marrow containing bone).The ethmoid sinuses are spared.Prominent malar eminences.Anterior & medial displacement of the developing teeth.
  • 11. Spine:Diffuse osteoporosis.Cortical thinning.Coarse trabecular pattern.Platyspondyly.
  • 12. Ribs:Diffuse osteoporosis.Medullary expansion.Cortical erosions.Bullous enlargement of the posterior ribs.
  • 13. Red marrow reconversion
  • 14. Extramedullary hematopoiesis
  • 15. 2ry hemochromatosisReticulo-endothelial iron deposition
  • 16. Skeletal dysplasia due to DFX TTMetaphyseal bands & growth arrest lines
  • 17. Skeletal dysplasia dueto DFX TT
  • 18. DD of growth arrest linesAnemia (thalassemia & sickle cell anemia).Lead poisoning.Chemotherapy.Treated leukemia.Healing rickets.Healing hyperparathyroidism.