Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis

J Med Genet. 1993 May;30(5):396-400. doi: 10.1136/jmg.30.5.396.

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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Erythrocyte Indices
  • Erythrocytes / chemistry
  • Female
  • Ferritins / analysis
  • Fetal Blood / cytology
  • Gene Frequency*
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase Deficiency / epidemiology
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Hemoglobins / analysis
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Middle Aged
  • Oman / epidemiology
  • Phenotype
  • Sickle Cell Trait / epidemiology
  • Sickle Cell Trait / genetics*
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins
  • Ferritins
  • Glucosephosphate Dehydrogenase