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Publications (2)9.88 Total impact

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    ABSTRACT: This paper describes the phenotypic manifestations of a very mild beta-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing, consists of a C-->G substitution at position 844 of IVSII of the beta-globin gene within the consensus sequence of the IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent beta-thalassaemia to that of a mild beta-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a beta-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C-->G) mutation and a severe beta-thalassaemia mutation have the phenotype of thalassaemia intermedia. This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent beta-thalassaemia.
    British Journal of Haematology 12/1994; 88(3):562-5. · 4.94 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: . This paper describes the phenotypic manifestations of a very mild β-thalassaemia mutation detected in several members of two families of Italian descent. The molecular defect, defined by denaturing gradient gel electrophoresis analysis and direct sequencing. consists of a C G substitution at position 844 of IVSII of the β-globin gene within the consensus sequence of IVSII acceptor splice site. Heterozygotes for this mutation show a haematological phenotype ranging in severity from silent β-thalassaemia to that of a mild β-thalassaemia carrier silent β-thalassaemia to that of a mild β-thalassaemia carrier state, whereas homozygotes have the typical manifestations commonly resulting from heterozygosity for a β-thalassaemia mutation. Compound heterozygotes for the IVSII nt844 (C G) mutation and a severe β-thalassaemia mutation have the phenotype of thalassaemia intermedia.This paper indicates that the presence of borderline red blood cell indices or HbA2 values should make one suspect the presence of a very mild or silent β-thalassaemia.
    British Journal of Haematology 01/1994; 88(3):562-565. · 4.94 Impact Factor