Interaction of five globin gene abnormalities in a Cambodian family

British Journal of Haematology
H SimpkinsD J Weatherall

Abstract

Members of a Cambodian family with an undiagnosed hypochromic, microcytic anaemia were found by haemoglobin and DNA analysis to have five interacting globin gene abnormalities. One child has Hb E and typical Hb H disease, while his mother has the form of Hb H disease associated with Hb Constant Spring interacting with Hb E. Quantitation of Hbs E and A2 by globin chain separation and triton/urea gel electrophoresis support the concept that Hb H/Constant Spring disease is a more severe form of alpha thalassaemia than Hb H disease. This family illustrates how the remarkably high prevalence of globin gene abnormalities in Southeast Asians can give rise to a series of atypical thalassaemic phenotypes, and how they can be defined by direct globin gene analysis.

References

Nov 20, 1969·Annals of the New York Academy of Sciences·P WasiM Pornpatkul
Oct 11, 1982·Nucleic Acids Research·P WinichagoonD J Weatherall
Nov 1, 1982·Proceedings of the National Academy of Sciences of the United States of America·S E AntonarakisA Chakravarti
Jun 1, 1984·The Journal of Clinical Investigation·S DerryP Wasi
Jul 1, 1982·British Journal of Haematology·D M HuntD J Weatherall
Jan 1, 1981·Transactions of the Royal Society of Tropical Medicine and Hygiene·D J Weatherall

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Citations

Jan 1, 1989·Hemoglobin·V ThonglairuamP Wasi
Jan 1, 1988·European Journal of Haematology·S FucharoenP Wasi

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