Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population.

@article{Shaji2003DeterminationOT,
  title={Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population.},
  author={Ramachandran Velayudhan Shaji and S E Eunice and Shoma Baidya and Alok Srivastava and Mammen Chandy},
  journal={British journal of haematology},
  year={2003},
  volume={123 5},
  pages={942-7}
}
The previously described South African type alpha-thalassaemia-1 mutation was identified in Indian HbH patients using a polymerase chain reaction (PCR) strategy. A multiplex PCR assay was devised to detect heterozygotes and homozygotes. This alpha-thalassaemia-1 mutation was found to be the commonest determinant causing HbH disease in this population. In one family this mutation was found in combination with a novel splice donor mutation alpha2 IVS I-1 (G-->A). Characterization of the… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 22 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 18 references

The diverse molecular basis and mild clinical picture of HbH disease in Israel.

Annals of the New York Academy of Sciences • 1998
View 1 Excerpt

A review of the molecular genetics of the human alpha - globin gene cluster

B. C. Kar, G. R. Serjeant, B. E. Serjeant, D. J. Weatherall
Blood • 1989

Alpha-thalassaemia in an Asian Indian.

British journal of haematology • 1988
View 2 Excerpts

Similar Papers

Loading similar papers…