Present address: Department of Genetics, The Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, U.S.A.
Characterization of a new α° thalassaemia defect in the South African population
Article first published online: 12 MAR 2008
British Journal of Haematology
Volume 66, Issue 4, pages 539–542, August 1987
How to Cite
Vandenplas, S., Higgs, D. R., Nicholls, R. D., Bester, A. J. and Mathew, C. G. P. (1987), Characterization of a new α° thalassaemia defect in the South African population. British Journal of Haematology, 66: 539–542. doi: 10.1111/j.1365-2141.1987.tb01341.x
- Issue published online: 12 MAR 2008
- Article first published online: 12 MAR 2008
- Received 16 December 1986; accepted for publication 11 February 1987
A new a thalassaemia defect has been detected in the South African population. Restriction mapping of the α globin gene cluster in affected individuals has established that the defect is associated with the removal of 22·8·23·7 kb of DNA, including the pSα1, pSα1, pSα2, α2, and α1 globin genes. The 5’endpoint of the deletion has been localized between the 2 and pSα1 globin genes, and the 3’endpoint lies 4–5 kb 3’to the α1 globin gene. We have called the deletion ––SA in order to distinguish it from α° thalassaemia defects described in other populations.