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Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia

L Oggiano1, E Rimini, L Frogheri

  • 1Istituto CNR per lo Studio della Patologia del Sangue, Sassari, Italy.

Clinical and Laboratory Haematology
|January 1, 1992
PubMed

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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