These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth.
    Author: Zorai A, Harteveld CL, Bakir A, Van Delft P, Falfoul A, Dellagi K, Abbes S, Giordano PC.
    Journal: Hemoglobin; 2002 Nov; 26(4):353-62. PubMed ID: 12484630.
    Abstract:
    We present the characterization of the molecular spectrum and frequency data of alpha-thal (thal) defects in Tunisia, and an evaluation of the efficacy and limitations of Hb Bart's (gamma4) measurement for the screening of alpha-thal at birth. Cord blood samples were collected from two different areas: the northeast of the country, an area where Hb H (beta4) disease frequently occurs, and Tunis, the capital city, representative of the average Tunisian population. From the first group, 110 samples with Hb Bart's and/or microcytosis at birth were selected from 1270 randomly collected samples. Two additional population samples, one from the same northeastern region (n = 90), the other from Tunis (n = 104) were collected randomly. Nine common deletional alpha-thal defects and nondeletional mutations were screened. In the northeastern samples, selected for the presence of Hb Bart's and microcytosis, the -alpha3.7 deletion was the most common defect (4.5% allele frequency) followed by a polyadenylation (poly A) signal mutation (1.8%), the five nucleotide (nt) deletion and the -alpha4.2 deletion (both 0.9%). The African polymorphism (G-->TCGGCCC at position 7238 and T-->G at 7174) was found with an allele frequency of 11% in the selected northeastern samples. In the random population samples, the overall alpha-thal allele frequency was 4% in the northeast region, against 2% in the average Tunisian population. The +14 (G-->C) polymorphism in the 5'UTR (untranslated region) of the alpha2 gene and the African polymorphism in the second intron of the same gene, were found in 3.5% of the alleles. No alpha0-thal alleles were found among the 304 blood samples studied at the DNA level during this survey.
    [Abstract] [Full Text] [Related] [New Search]