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Autosomal dominant polycythemia
JT Prchal, WM Crist, E Goldwasser, G Perrine and JF Prchal
Two families with polycythemia inherited as an autosomal dominant trait are
described. Serial hemoglobin determinations in multiple family members and
RBC volume measurements in selected affected subjects documented their
polycythemia. Measurements of arterial p02s, p50s, and blood oxygen
affinity were normal in all affected individuals from each family who were
tested. Erythropoietin (EPO) levels were low in affected individuals from
family 1 and normal in affected members of family 2. Stimulation of in
vitro CFU-E colony growth by low levels of EPO was significantly increased
in subjects from family 1, but normal in those affected from family 2. We
conclude that although the inheritance pattern for the polycythemia in both
of these families appeared to be the same, the biologic defect leading to
the disorder in each of these unique families was different. The precise
mechanism of the increased EPO sensitivity noted in affected subjects from
family 1 awaits elucidation.
Volume 66,
Issue 5,
pp. 1208-1214,
11/01/1985
Copyright © 1985 by The American Society of Hematology
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