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Article

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

Clinical and laboratory haematology - 1 Jan 1992

Oggiano L, Rimini E, Frogheri L, Guiso L, Pistidda P, Longinotti M

Abstract excerpt

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...

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PMID: 1478008

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