title: Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.
abstract: 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.
authors.affiliation: Department of Haematology, Sultan Qaboos University, Al Khod, Muscat, Sultanate of Oman.
authors.forename: J M
authors.initials: JM
authors.lastname: White
authors.forename: B S
authors.initials: BS
authors.lastname: Christie
authors.forename: D
authors.initials: D
authors.lastname: Nam
authors.forename: S
authors.initials: S
authors.lastname: Daar
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004909:Erythrocyte Indices; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D005293:Ferritins / Q000032:analysis; D005312:Fetal Blood / Q000166:cytology; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006454:Hemoglobins / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009850:Oman / Q000453:epidemiology; D010641:Phenotype; D012805:Sickle Cell Trait / Q000453:epidemiology / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D005293:Ferritins; D005954:Glucosephosphate Dehydrogenase