Spectrum of beta-thalassemia mutations in Egypt.

Provincial Hemoglobinopathy, DNA Diagnostic Laboratory, McMaster University Medical Centre, Hamilton, Ontario, Canada.
Hemoglobin (Impact Factor: 0.79). 09/1999; 23(3):255-61.
Source: PubMed
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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]. "
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    ABSTRACT: 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.
    BioMed Research International 02/2001; 1(3):129-132. DOI:10.1155/S1110724301000298 · 2.71 Impact Factor
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    ABSTRACT: We present the molecular spectrum of beta-thalassemia in the Moroccan population obtained by the identification of molecular defects responsible for this disease, and herewith we show that the Moroccan population is genetically heterogeneous; 18 different mutations have been found in the 158 beta-globin chromosomes studied. Eight mutations [codon 39 (C --> T), FSC-8 (-AA), IVS-II-745 (C --> G), -29 (A --> G), FSC-6 (-A), IVS-I-110 (G --> A), IVS-I-2 (T --> C), and IVS-I-1 (G --> A)] out of 18 beta-thalassemia mutations identified accounted for 76% of the Moroccan beta-thalassemia chromosomes. Restriction fragment length polymorphism (RFLP) haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow due to migration.
    Genetic Testing 11/2008; 12(4):563-8. DOI:10.1089/gte.2008.0058 · 1.65 Impact Factor