Thalassemia genetics

1. Thalassemia genetics
Dr. Govind Kendre
Department of hematology,
Seth G.S. medical college & KEM hospital,
Parel,Mumbai

2. Hemoglobin structure

3. Heme

4. Chromosomal organization of the
globin genes

5. BETA GLOBIN GENE

6. Hb synthesis

12. Beta chain synthesis

13. Beta thalassemia mutations

14. Racial Group Description
Mediterranean IVS-1, position 110 (G → A)
Codon 39, nonsense (CAG → TAG)
IVS-1, position 1 (G → A)
IVS-2, position 745 (C → G)
IVS-1, position 6 (T → C)
IVS-2, position 1 (G → A)
Black -34 (A → G)
-88, (C → T)
Poly(A), (AATAAA → AACAAA)
Southeast Asian Codons 41/42, frameshift (-CTTT)
IVS-2, position 654 (C → T)
-28 (A → T)
Asian Indian IVS-1, position 5 (G → C)
619-bp deletion
Codons 8/9, frameshift (++G)
Codons 41/42, frameshift (–CTTT)
IVS-1, position 1 (G → T)

19. THANK YOU