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Familial and congenital polycythemia in three unrelated families
PD Emanuel, CJ Eaves, VC Broudy, T Papayannopoulou, MR Moore, AD D'Andrea, JF Prchal, AC Eaves and JT Prchal
Department of Medicine, University of Alabama, Birmingham 35294.
Three families with polycythemia inherited through apparently different
modes are described. Secondary causes of polycythemia were ruled out.
Erythropoietin (EPO) levels were normal or low, even after phlebotomy. In
vitro erythroid colony growth in standard assay cultures containing EPO was
normal; however, in the absence of added EPO, a few progenitors from most
of the affected individuals were able to generate recognizable colonies of
mature erythroblasts, although these were smaller and proportionately less
numerous than seen in polycythemia vera (PV). To search for EPO-receptor
changes as a possible pathophysiologic mechanism, we examined, by Southern
blot analysis, genomic DNA samples from affected and nonaffected family
members, as well as three patients with PV. Two different probes, derived
from the human EPO-receptor, were used. We found no evidence for
chromosomal rearrangements or gene amplification in hereditary polycythemia
or PV patients. Further, no nucleotide sequences were found that were
homologous to the Friend spleen focus-forming virus glycoprotein gp55,
which has been shown to bind to and activate the murine EPO-receptor.
Functional studies examining number and binding affinity of the EPO-
receptor on erythroid progenitors from three hereditary polycythemia
patients demonstrated no abnormalities. We conclude that the mechanism(s)
for the erythrocytosis in familial and congenital polycythemia and in PV
may not involve the EPO-receptor and, therefore, may result from
alterations of postreceptor responses.
Volume 79,
Issue 11,
pp. 3019-3030,
06/01/1992
Copyright © 1992 by The American Society of Hematology
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