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  • Title: Biosynthetic studies and gamma-chain composition in the Greek type of hereditary persistence of fetal hemoglobin and in its association with beta-thalassemia.
    Author: Camaschella C, Ciocca-Vasino MA, Guerrasio A, Balegno G, Barberis E, Delponte D, Saglio G.
    Journal: Acta Haematol; 1979; 61(5):272-7. PubMed ID: 111454.
    Abstract:
    Hematological data, biosynthetic studies and gamma-chain structure of three heterozygotes for HPFH Greek type and of two heterozygotes for both HPFH and beta-thalassemia are reported. In the HPFH heterozygotes, hematological data were normal and globin chain synthesis balanced, while subjects carrying both HPFH and beta-thalassemia presented a thalassemic picture and the same degree of alpha/non-alpha-chain imbalance as the beta-thalassemia carrier belonging to the same family. The gamma-chain composition studies showed only the presence of Agamma-chains in HPFH; in the association HPFH/beta-thalassemia also some Ggamma and Tgamma were found. The mechanisms determining the high production of Hb F in the association HPFH/beta-thalassemia are discussed.
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