Molecular Characterization of β-Thalassehia in the United Arab Emirates

El-Kalla, S.; Mathews, A. R.

doi:10.3109/03630269308997488

Cited by 23 publications

(8 citation statements)

References 9 publications

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“…Although this allele is found among Asian Indians (Spurdle et al 1994) we did not find it in males from either the U.A.E. or Oman, two populations showing considerable admixture with Asian Indians (E1- Kalla and Mathews 1993;De Leo et al 1995). We confirmed the randomization of the MspI site with respect to the other polymorphisms, in agreement with the hypothesis of Spurdle et al (1994) that recombination occurred in the proximal part of the pseudoautosomal region.…”

Section: Discussionmentioning

confidence: 44%

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

et al. 1995

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The haplotypes at four polymorphic loci of the Y chromosome were determined in 245 Caucasian males from 12 subpopulations. The data show that haplotype radiation occurred among Caucasians. Haplotype radiation was accompanied by recurrent mutations at STR loci that caused partial randomization of haplotype structure. The present distribution of alleles at short tandem repeats (STRs) can be explained by a mutation pattern similar to those described for autosomal STRs. The degree of variation among groups of subpopulations was assayed by using the Analysis of Molecular Variance. The results confirm a faster divergence of the Y chromosome as compared to the rest of the genome.

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Section: Discussionmentioning

confidence: 44%

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

et al. 1995

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“…In the UAE, molecular characterization of β-thal has been well documented [13, 14, 15, 16, 17]. However, very little is known about the molecular basis of α-thal, especially the nondeletional types which result in more severe phenotype than the deletional counterpart.…”

Section: Discussionmentioning

confidence: 99%

α-Thalassemia in the United Arab Emirates

El-Kalla

Baysal²

1998

Acta Haematol

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A neonatal screening survey of α-thalassemia (α-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 α-globin gene defect. The gene frequency of the –α^3.7 was 0.2847 and that of the –α^4.2 was 0.0072. Four nondeletional α-thal mutations were found; α^PA-1, α^PA-2, Hb CS and α^-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 α^PA-1 mutation, 2 were homozygous for Hb CS, and 14 were compound heterozygous for either α^PA-1, Hb CS, α^-5nt del or ––MED-I, with the –α^3.7. The data reported here demonstrate that a considerable heterogeneity of α-thal mutations occurs in the UAE and that the incidence of α-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.

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“…Still, as much of the currently available data have been collected and pooled and the reported mutations and their corresponding frequencies in twelve different countries have been tabulated for comparison (see Table 1). These include Syria [1], Lebanon [2, 3, 4], Jordan [5], Israeli Arabs [6] and Arabs from the Gaza strip [7], Saudi-Arabia [8, 9, 10, 11], Kuwait [12], Bahrain [13], the United Arab Emirates (UAE) [14, 15, 16, 17], Oman [18], Egypt [19, 20, 21, 22, 23], Tunisia [24, 25], and Algeria [26, 27, 28]. …”

Section: Review Of the Literaturementioning

confidence: 99%

The Spectrum of β‐Thalassemia Mutations in the Arab Populations

Zahed

2001

BioMed Research International

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The Arab countries encompass a wide region stretching from the Persian Gulf to the Atlantic Ocean. The Arab population is quite heterogeneous and has experienced various invasions and migrations throughout history. β-thalassemia is endemic in all countries of the Arab world. Our review of the molecular basis of β-thalassemia in various Arab countries reveals the presence of 52 mutations, which are mostly of Mediterranean and Asian origin. The distribution of mutations reflects the geographical and historical backgrounds of each region. However, no specific mutation is confined to the Arabs, although some Arab countries do have unique mutations.

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Molecular Characterization of β-Thalassehia in the United Arab Emirates

Cited by 23 publications

References 9 publications

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

Recurrent simple tandem repeat mutations during human Y-chromosome radiation in Caucasian subpopulations

α-Thalassemia in the United Arab Emirates

The Spectrum of β‐Thalassemia Mutations in the Arab Populations

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