RARE BLEEDING DISORDERS IN INDIA

1. RARE BLEEDING DISORDERS IN INDIA

2. CONSANGUINITY IN INDIA 12-42%* Pune Maharashtra Andhra Pradesh Karnataka TamilNadu Kerala Vellore TOTAL POPULATION : ~1.1 BILLION *Sundar et al, Indian J Med Res 1971

6. FIBRINOGEN DISORDERS • Afibrinogenemia - when clot was not detectable by Clauss method • Hypofibrinogenemia - fibrinogen was less than 100 mg% and with prolonged PT, APTT and TT • Dysfibrinogenemia - fibrinogen was more than 100 mg% with a prolonged PT, APTT and TT. • 3 - Afibrinogenemia • 16 – Hypofibrinogenemia • 8 – Dysfibrinogenemia)

7. Fibrinogen disorders

8. CLINICAL FEATURES, PHENOTYPE, MOLECULAR DATA ON PATIENTS WITH PROTHROMBIN DEFICIENCY a Age of first investigation b Consanguinity status * Novel mutation Jayandharan et al, J Thromb Haemost, 2005.

9. FV DEFICIENCY

10. FV and FVIII deficiency

11. FVII DEFICIENCY

12. List of mutations in patients with hereditary factor VII deficiency Leu-55fs*(n=2) Arg-1Cys* Gly117Arg Arg152Gln Ala191Glu* Gln227Stop* (n=3) Trp364Cys Gln381Stop* No. of patients screened- 11 No. of mutations- 8 *Novel mutation *

13. FX DEFICIENCY

14. List of mutations in patients with hereditary factor X deficiency Phe31Ser* (heterozygous) Cys132fs* (heterozygous) Gly133Arg* Gly223Arg* Thr318Met Gly323Ser Ser354Arg* Gly366Ser No. of patients screened- 7 No. of mutations- 8 *Novel mutation * Jayandharan et al, J Thromb Haemost, 2005.

15. CLINICAL FEATURES, PHENOTYPE AND MOLECULAR DATA ON PATIENTS ANALYZED FOR FACTOR XI DEFICIENCY # A PATIENT WITH COMBINED FACTOR IX (FIX:C<1%) AND XI DEFICIENCY Jayandharan et al, J Thromb Haemost, 2005

16. F XIII DEFICIENCY

17. List of mutations in patients with hereditary factor XIII deficiency Tyr69Stop* Arg260His Ser263Phe* Ser290/Ala292fs* Ser413Phe Val414Phe Tyr547Fs* Int14(-1)G>A No. of patients screened- 8 No. of mutations- 8 *Novel mutation * Jayandharan et al, Thromb Haemost, 2006

18. Genotypic analysis of patients with rare bleeding disorders in India