Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.


The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by Southern blotting) is pandemic in this population. Moreover, in spite of the very high frequency of Gd-, oxidative haemolytic syndromes are very uncommon. Also preliminary data indicate that among the Omani population with sickle cell disease, homozygosity of the alpha+ gene markedly modifies the clinical picture.

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@article{White1993FrequencyAC, title={Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.}, author={Joy M White and Brian Sidney Christie and Denis Nam and Shahina Daar and Douglas R Higgs}, journal={Journal of medical genetics}, year={1993}, volume={30 5}, pages={396-400} }