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Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence
of fetal hemoglobin and beta o-thalassemia
RS Weinberg, SE Antonarakis, HH Kazazian , GJ Dover, SH Orkin, AL Lenes, JM Schofield and BP Alter
To determine whether hemoglobin regulation is normal in diseases affecting
beta-globin gene expression, globin synthesis was examined in members of a
family of a patient with hereditary persistence of fetal hemoglobin/beta
o-thalassemia (HPFH/beta o-thal). The HPFH defect is the Ghanian type II,
with a deletion from psi beta 1 to at least 20 kb 3' to beta. The beta
o-thal gene has the haplotype II restriction enzyme pattern and has the
beta 39 nonsense mutation. Erythroid colonies from blood BFU-E were
radiolabeled, and globin chains were separated by gel electrophoresis.
Colonies from the beta o-thal heterozygote had non-alpha/alpha ratios more
balanced than in the reticulocytes. Gamma synthesis was 11% of non-alpha,
which is higher than in reticulocytes, but within the range seen in normal
adult colonies. Both HPFH heterozygotes produced 20%-30% gamma in erythroid
colonies as well as reticulocytes, although non-alpha/alpha was more
balanced in the colonies. The HPFH/beta o-thal patient produced 100% gamma
in reticulocytes and in colonies. G gamma and gamma-synthetic proportions
were not correlated at the individual colony level in the heterozygotes,
suggesting that they had "adult" and not "fetal" progenitor cells. The Hb
expression of these adult progenitors is presumably modulated normally in
vivo in beta o-thal, but the normal decrease in HbF production does not
occur in gene deletion HPFH.
Volume 63,
Issue 6,
pp. 1278-1284,
06/01/1984
Copyright © 1984 by The American Society of Hematology
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