Characterization of a new α° thalassaemia defect in the South African population

Abstract
A new .alpha. thalassaemia defect has been detected in the South African population. Restriction mapping of the .alpha. 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 .psi..zeta.1, .psi..alpha.1, .psi..alpha.2, .alpha.2 and .alpha.1 globin genes. The 5'' endpoint of the deletion has been localized between the .zeta. and .psi..zeta.1 globin genes, and the 3'' endpoint lies 4-5 kb 3'' to the .alpha.1 globin gene. We have called the deletion --SA in order to distinguish it from .alpha.o thalassemia defects described in other populations.