Biosynthetic Studies and <i>γ</i>-Chain Composition in the Greek Type of Hereditary Persistence of Fetal Hemoglobin and in Its Association with <i>β</i>-Thalässemia

Abstract

Hematological data, biosynthetic studies and γ-chain structure of three heterozygotes for HPFH Greek type and of two heterozygotes for both HPFH and β-thalassemia are reported. In the HPFH heterozygotes, hematological data were normal and globin chain synthesis balanced, while subjects carrying both HPFH and β-thalassemia presented a thalassemic picture and the same degree of α/non-α-chain imbalance as the β-thalassemia carrier belonging to the same family. The γ-chain composition studies showed only the presence of ^Aγ-chains in HPFH; in the association HPFH/β-thalassemia also some ^Gγ and ^Τγ were found. The mechanisms determining the high production of Hb F in the association HPFH/β-thalassemia are discussed.