RT Journal Article
SR Electronic
T1 Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 396
OP 400
DO 10.1136/jmg.30.5.396
VO 30
IS 5
A1 White, J M
A1 Christie, B S
A1 Nam, D
A1 Daar, S
A1 Higgs, D R
YR 1993
UL http://jmg.bmj.com/content/30/5/396.abstract
AB 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.