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  • Title: THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
    Author: Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H.
    Journal: Hemoglobin; 2008; 32(3):303-7. PubMed ID: 18473247.
    Abstract:
    We report a family in which two siblings are compound heterozygotes for Hb S [beta6(A3)GluVal] and a rare beta-globin mutation [IVS-I (-2) (A>C)]. Both patients had significant levels of Hb A, indicating that the IVS-I (-2) mutation is a relatively mild beta(+)-thalassemia (beta(+)-thal) allele. This mutation, in compound heterozygosity with Hb S, does not necessarily lead to a mild clinical course.
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