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.
Mots-clés Pascal : Thalassémie alpha, Hémoglobine H, Phénotype, Génotype, Prévalence, Mutation, Chaîne peptidique alpha, Epidémiologie moléculaire, Gène, Globine, Emirats Arabes Unis, Asie, Homme, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Hémoglobine instable
Mots-clés Pascal anglais : alpha-Thalassemia, Hemoglobin H, Phenotype, Genotype, Prevalence, Mutation, Alpha-Peptide chain, Molecular epidemiology, Gene, Globin, United Emirates, Asia, Human, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease, Unstable hemoglobin
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0388788
Code Inist : 002B19A01. Création : 25/01/1999.