alpha-thalassemia in the United Arab Emirates.
A neonatal screening survey of alpha-thalassemia (alpha-thal) among the United Arab Emirates (UAE) nationals was conducted on 418 consecutive cord blood samples. Our findings demonstrate that 49% of the cases studied were found with an alpha-globin gene defect. The gene frequency of the -alpha3.7 was 0.2847 and that of the -alpha4.2 was 0.0072. Four nondeletional alpha-thal mutations were found; alphaPA-1, alphaPA-2, Hb CS and alpha-5nt del with gene frequencies of 0.0036, 0.0012, 0.0024, and 0.0072, respectively. We also report here the genotype-phenotype correlation in 22 patients with Hb H disease or Hb H-like syndrome. Of these, 6 were homozygous for the alphaPA-1 mutation, 2 were homozygous for Hb CS, and 14 were compound heterozygous for either alphaPA-1, Hb CS, alpha-5nt del or --MED-I, with the -alpha3.7. The data reported here demonstrate that a considerable heterogeneity of alpha-thal mutations occurs in the UAE and that the incidence of alpha-thal in the indigenous population is one of the highest in the world. Our clinical data suggest that Hb H disease in the UAE has, in general, a mild to moderate phenotypic presentation.
El-Kalla
S
S
Department of Pediatrics and Genetics and Department of Health and Medical Services, Dubai, United Arab Emirates.
Baysal
E
E
D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D014479:United Arab Emirates / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics* / Q000517:prevention & control
D005914:Globins