The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected.
A survey of hemoglobinopathies in northern Sardinia revealed a high frequency (0.3%) of carriers of a hematologic condition characterized by increased expression of fetal hemoglobin during adult life (hereditary persistence of fetal hemoglobin or HPFH).
The sequence of the A gamma globin gene from the affected chromosome of an individual heterozygous for the G gamma beta+ type of hereditary persistence of fetal haemoglobin (G gamma beta+ HPFH) is reported.