Hereditary Persistence of Fetal Hemoglobin (HPFH)

Hereditary persistence of fetal hemoglobin
(HPFH) refers to a genetically heterogeneous
group of diseases in which the temporal expression
of the !-globin genes during development
has been altered. Individuals with HPFH produce
increased amounts of fetal hemoglobin
(HbF). Under some conditions, HbF may be the
only !-globin-like gene product formed. Clinically,
HPFH is relatively benign, although HbF is
not optimally adapted to postnatal conditions.
Analysis of HPFH has yielded insight into the
control of globin gene transcription and the effect
of mutations in noncoding sequences.