A SINGLE α‐GLOBIN GENE DELETION IN AUSTRALIAN ABORIGINES

Abstract

- and -thalassaemias and other haemoglobinopathies have not so far been reported in Australian Aborigines. Using a DNA mapping technique, we tested groups of Aborigines for a deletion form of -thalassaemia and found that there was a single -globin gene deletion (-/ ) in some populations. The -globin gene deletion was detected in Aboriginal DNA samples collected from Kalumburu in the Kimberley region of Western Australia. It was found also in one sample from Mowanjum, near Derby in Western Australia, and in one from Mornington Island in the Gulf of Carpentaria. It was not observed in Aboriginal DNA samples from the central desert. Further analysis of the -globin gene deletion revealed that it was of the 37 kilobase (Kb) (- ³⁷) type. However, the - ³⁷ deletion in the Aborigines is apparently different from that found in southern Papua New Guinea as it is linked to a different -globin gene polymorphism. The presence of this silent -thalassaemia in several populations of Aborigines may be explained in several ways. The most likely is through contact with Macassans or other voyagers from the Indonesian and Southeast Asian areas.