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!!!!!!!!!

Transcript of Thalassemia Urmimala

  • 1. THALASSEMIA
    Burden of the disease
    And
    Molecular Pathogenesis
    By-Urmimala Bhattacharjee
    (5th Semester)
    Moderator- Dr Santosh kr Mondal
    (Associate Professor)
    Department of Pathology,
    Medical College, Kolkata.

2. Group of congenital anaemias.
Deficient synthesis of one or more globin subunits of normal human hemoglobin
According to the chain whose synthesis is impaired, the thalassemias are called -,-,-,-,- or - thalassemias.
3. Geographic Distribution
Found in high frequency in abroad beltextending from the Mediterranean basin, the Middle East, Indian Subcontinent, Burma, South-east Asia and the islands of the Pacific.
4. THALASSEMIA BELT
5. World-wide 15 million people haveclinically apparent thalassemia disorders.
There are 240 million carriers of -thalassemia in the world.
In India, 30 million people are -thalassemia carrier with a mean prevalence of 3.3%.
(INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)
6. Every year 100,000 children with thalassemia major are born world over, ofwhich 10000 are born in India.
(INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)
7. Carrier rate for -thalassemia varies from 1-3% in South India to 3-15%in North India.
Higher carrier rate is especially noticed in the tribal population all overIndia.
(INDIAN PEDIATRICS, Vol. 44, September 17, 2007, page 647)
8. in tribal population
9. What about West Bengal?
Thalassemia trait prevalent in the population of the state in the magnitude of 11.25%.
Prevalence among close relatives of cases is 55.26%.
Prevalence among scheduled tribes and Muslims is predominantly more.
(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.)
10. General population has a prevalence of3.6% (males) and 5.95% in antenatal mothers.
High prevalence rate is associated with illiterates (19.23%) than literates (5.55%).
Highest prevalence rate 20.47% is associated with age group of 0-9 years.
(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.)
11. Molecular Pathogenesis
Of
Thalassemia.
12. Mutations causing -thalassemia
Deletion -thalassemia
Non-deletion -thalassemia.
13. Deletion -thalassemia
+ type
Single globin gene deletion.

  • -4.2 kb (leftward deletion)

14. -3.7 kb(rightward deletion) 15. -3.5kb 16. []5.3 17. Region containing 1 gene. 0 type
Deletion of both 1 and 2 globin gene.

  • -[]5.2

18. -[]20.5 19. HS40 deletion alone keeping 1 and 2 sites intact.