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Summary.

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.