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Spectrum of ? thalassemia mutations and their linkage to ?-globin gene haplotypes in the Indo-Mauritians

✍ Scribed by Kotea, Navaratnam; Ramasawmy, Rajendranath; Lu, Chang Yong; Fa, Nathalie Sem; Gerard, Nathalie; Beesoon, Sanjay; Ducrocq, Rolande; Surrun, Soondal Koomar; Nagel, Ronald L.; Krishnamoorthy, Rajagopal

Book ID: 101215892
Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 36 KB
Volume: 63
Category: Article
ISSN: 0361-8609
DOI: 10.1002/(sici)1096-8652(200001)63:1<11::aid-ajh3>3.0.co;2-d

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✦ Synopsis

The ␤ thalassemia alleles in 53 thalassemic Indo-Mauritian patients and their families consisting of 23 homozygous ␤-thalassemia, 9 HbE/␤-thalassemia, 18 HbS/␤thalassemia, 1 HbD/␤-thalassemia, 1 ␦␤/␤-thalassemia and 1 HbH/␤-thalassemia from the island of Mauritius were studied. Characterization by polymerase chain reaction-based reverse dot blot hybridization technique revealed that the IVS1-5 (G→C) mutation accounted for 74% of the ␤ thalassemic alleles, while six other mutations occurred at much lower frequencies: HbE codon 26 (G→A); 10.4%, codon 8/9 (+G); 3.5%, codon 30 (AGG→ACG) also called IVSI (-1).G→C; 3.5%, codon 15 (G→A); 3.5%, codon 41/42 (-CTTT); 2.4% and -28 (A→G); 2.4%. Association of these mutations to specific ␤ globin gene sequence framework and haplotype allowed to trace their ancestral link. These data are useful in future molecular screening of the population in view of implementing a thalassemia prevention and control program in Mauritius. Am.

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