Thalassemia Urmimala

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22september 2011, GLT medical College Kolkata88, India..............under Pathology Dept!!!!!!!!1Dr.S.K.Mandal.........chief speakers aVIK bASU, Chirantan Mnadal, Urmimala Bhattacharya, Soumaditya Banerjee!!!!!!!!!

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Thalassemia Urmimala

  1. 1. THALASSEMIA<br />Burden of the disease<br />And <br />Molecular Pathogenesis<br />By-Urmimala Bhattacharjee<br />(5th Semester)<br />Moderator- Dr Santosh kr Mondal<br /> (Associate Professor)<br /> Department of Pathology,<br /> Medical College, Kolkata.<br />
  2. 2. Group of congenital anaemias.<br />Deficient synthesis of one or more globin subunits of normal human hemoglobin<br />According to the chain whose synthesis is impaired, the thalassemias are called α-,β-,γ-,δ-,δβ- or εγδβ- thalassemias.<br />
  3. 3. Geographic Distribution<br />Found in high frequency in a broad belt extending from the Mediterranean basin, the Middle East, Indian Subcontinent, Burma, South-east Asia and the islands of the Pacific.<br />
  4. 4. THALASSEMIA BELT<br />
  5. 5. World-wide 15 million people have clinically apparent thalassemia disorders.<br />There are 240 million carriers of β-thalassemia in the world.<br />In India, 30 million people are β-thalassemia carrier with a mean prevalence of 3.3%.<br /> (INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)<br />
  6. 6. Every year 100,000 children with thalassemia major are born world over, of which 10000 are born in India.<br /> (INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)<br />
  7. 7. Carrier rate for β-thalassemia varies from 1-3% in South India to 3-15% in North India.<br />Higher carrier rate is especially noticed in the tribal population all over India.<br />(INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)<br />
  8. 8. in tribal population<br />
  9. 9. What about West Bengal?<br />Thalassemia trait prevalent in the population of the state in the magnitude of 11.25%.<br />Prevalence among close relatives of cases is 55.26%.<br />Prevalence among scheduled tribes and Muslims is predominantly more.<br />(JIMA, 2006 Jan;104(1):11-5. Prevalence of thalassaemia trait in the state of West Bengal, Sur D, Mukhopadhyay SP. Source- National Institute of Cholera and Enteric Diseases, Kolkata 700010.)<br />
  10. 10. General population has a prevalence of 3.6% (males) and 5.95% in antenatal mothers.<br />High prevalence rate is associated with illiterates (19.23%) than literates (5.55%).<br />Highest prevalence rate 20.47% is associated with age group of 0-9 years.<br />(JIMA, 2006 Jan;104(1):11-5. Prevalence of thalassaemia trait in the state of West Bengal, Sur D, Mukhopadhyay SP. Source- National Institute of Cholera and Enteric Diseases, Kolkata 700010.)<br />
  11. 11. Molecular Pathogenesis<br />Of<br />Thalassemia.<br />
  12. 12. Mutations causing α-thalassemia<br />Deletion α-thalassemia<br />Non-deletion α-thalassemia.<br />
  13. 13. Deletion α-thalassemia<br />α + type<br />Single α globin gene deletion.<br /><ul><li>-α4.2 kb (leftward deletion)
  14. 14. -α3.7 kb(rightward deletion)
  15. 15. -α3.5kb
  16. 16. α[α]5.3
  17. 17. Region containing α1 gene.</li></ul>α 0 type<br />Deletion of both α1 and α2 globin gene.<br /><ul><li>-[α]5.2
  18. 18. -[α]20.5
  19. 19. HS40 deletion alone keeping α1 and α2 sites intact.</li></li></ul><li>Non-deletion α-thalassemia<br />Hb Constant Spring(α 142 TAASCAA, StopSGlu)<br />Hb Icaria (α 142 Lys)<br />Hb Koya Dora (α 142 Ser)<br />Hb Seal Rock (α 142 Glu)<br />Hb Paksé (α 142 Tyr). <br />Due to modification of stop codon.<br />(Continued…)<br />
  20. 20. Hb Heraklion (α 137 ProS0)<br />Hb Agrinio (α 29 LeuSPro)<br />2. Mutation in α-globin gene<br />
  21. 21. Mutations causing β-thalassemia<br />Non-deletion β-thalassemia<br />Deletion β-thalassemia<br />
  22. 22. Non-deletion β-thalassemia<br />Occurs due to:-<br />Single nucleotide substitution<br />Oligonucleotide insertions/deletions<br />
  23. 23. Non-deletion β-thalassemia<br />Mutations altering β-gene transcription<br />Promoter mutation-affecting conserved motifs in 5’ flanking sequence if β gene (TATA box.)<br />5’-UTR mutation<br />
  24. 24. Mutation involving RNA processing<br />Splice junction mutation-Eg.- Mutation at position 5 of IVS-1(G C)<br />Consensus splice mutation<br />Cryptic splice site mutation in introns<br />Cryptic splice mutation in exons<br />Poly A and other 3’-UTR mutation<br />
  25. 25. Mutations involving m-RNA translation<br />Initiation codon mutation<br />Nonsense codon mutation<br />Frameshift mutation<br />
  26. 26. Deletion β-thalassemia<br />619-bp deletion removing 3’ end of β-globin gene.<br />This mutation is very common in Punjab and Sind.<br />
  27. 27.
  28. 28.
  29. 29.
  30. 30. Thank You<br />

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