Thalassemia

1. Dr / Hytham Nafady
Thalassemia

2. it is a genetic disorder of
hemoglobin synthesis in which
there is defective synthesis of
alpha or beta chains.

3. Thalassemia
Alpha Thalassemia Beta thalassemia
Defective synthesis of
alpha chain
Defective synthesis of
Beta chain

4. Thalassemia
Thalassemia major Thalassemia minor
Homozygos
sever form
Heterozygos
minor form

5. Pathogenesis of thalassemia
ineffective erythropoiesis

6. C.P
Hemolytic anemia:
Anemia.
Jaundice.
Hepatosplenomegally due to extramedullary
hemopoiesis.
Rodent facies (prominent malar eminences &
malalignement of the teeth) due to facial bone
deformity 2ry to bone marrow hyperplasia.

8. Bone marrow hyperplasia
Long bones:
Diffuse osteoporosis,
Medullary expansion,
Cortical thinning,
Coarse trabeculations (reactive sclerosis of the 2ry bone
trabeculae after destruction of the primary trabeculae), &
Enlargement of the nutrient foramina.

10. Bone marrow hyperplasia
Skull:
Widening of the diploic space.
Thinning of the inner & outer table (complete resorption of the outer
table may occur).
Prominent 2ry trabeculae (hair on end appearance).
The occipital bone is spared as it lacks hemopoietic bone marrow.

11. Hair on end appearance

12. Facial bones:
Hypopneumatization of the frontal, maxillary & sphenoid
sinuses (which are filled with marrow containing bone).
The ethmoid sinuses are spared.
Prominent malar eminences.
Anterior & medial displacement of the developing teeth.

14. Spine:
Diffuse osteoporosis.
Cortical thinning.
Coarse trabecular pattern.
Platyspondyly.

15. Ribs:
Diffuse osteoporosis.
Medullary expansion.
Cortical erosions.
Bullous enlargement of the posterior ribs.

17. Red marrow reconversion

18. Extramedullary hematopoiesis

19. 2ry hemochromatosis
Reticulo-endothelial iron deposition

21. Skeletal dysplasia due to DFX TT
Metaphyseal bands & growth arrest lines

22. Skeletal dysplasia due
to DFX TT

23. DD of growth arrest lines
Anemia (thalassemia & sickle cell anemia).
Lead poisoning.
Chemotherapy.
Treated leukemia.
Healing rickets.
Healing hyperparathyroidism.