TY - JOUR
T1 - Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis
AU - White, J. M.
AU - Christie, B. S.
AU - Nam, D.
AU - Daar, S.
AU - Higgs, D. R.
PY - 1993
Y1 - 1993
N2 - The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous α+ thalassaemia (-α/-α) 0.45; high Hb A2 β 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 α+ (-α/) 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 α+ gene markedly modifies the clinical picture.
AB - The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous α+ thalassaemia (-α/-α) 0.45; high Hb A2 β 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 α+ (-α/) 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 α+ gene markedly modifies the clinical picture.
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U2 - 10.1136/jmg.30.5.396
DO - 10.1136/jmg.30.5.396
M3 - Article
C2 - 8320702
AN - SCOPUS:0027231519
SN - 0022-2593
VL - 30
SP - 396
EP - 400
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 5
ER -