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A single alpha-globin gene deletion in Australian aborigines
The Australian Journal of Experimental Biology and Medical Science
|June 1, 1986
Summary
Alpha-thalassaemia, a genetic blood disorder, was found in some Australian Aboriginal populations using DNA mapping. This silent condition, the alpha-globin gene deletion, may have been introduced through historical contact.
Area of Science:
- Genetics
- Anthropology
- Hematology
Background:
- Haemoglobinopathies, including alpha- and beta-thalassaemia, were previously unreported in Australian Aboriginal populations.
- Alpha-thalassaemia is a genetic disorder affecting haemoglobin production.
Purpose of the Study:
- To investigate the presence of alpha-thalassaemia in Australian Aboriginal populations.
- To characterize the specific type of alpha-thalassaemia deletion and its geographic distribution.
Main Methods:
- DNA mapping techniques were employed to analyze Aboriginal DNA samples.
- Specific focus on identifying alpha-globin gene deletions, particularly the -alpha 3.7 type.
Main Results:
- A single alpha-globin gene deletion (-alpha/alpha alpha), specifically the 3.7 kilobase (-alpha 3.7) type, was detected in Aboriginal populations from Kalumburu, Mowanjum, and Mornington Island.
- This deletion was absent in samples from the central desert region.
- The identified -alpha 3.7 deletion appears distinct from that in Papua New Guinea due to a different zeta-globin gene polymorphism linkage.
Conclusions:
- The study identified the presence of a silent alpha-thalassaemia in several Australian Aboriginal communities.
- The findings suggest a potential historical introduction of this genetic trait, possibly through contact with Macassans or other Southeast Asian voyagers.