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  • Title: Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.
    Author: Oggiano L, Rimini E, Frogheri L, Guiso L, Pistidda P, Longinotti M.
    Journal: Clin Lab Haematol; 1992; 14(4):289-92. PubMed ID: 1478008.
    Abstract:
    In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndrome, the latter, her daughter, showing a normal HbA2 thalassaemia trait. Molecular analysis revealed the daughter to also be a carrier of a delta+27-thalassaemia point mutation, which in trans to the beta zero 39 defect invariably normalizes the HbA2 levels.
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