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The clinical presentation of polycythemia vera (PV) is variable. Although most patients have the JAK2 V617F gene mutation, the magnitude of the allele burden does not correlate with disease severity.
To determine whether gene expression in hematopoietic stem cells distinguishes varying degrees of PV severity, investigators performed oligonucleotide microassay analyses on RNA of CD34+ peripheral blood cells isolated from 19 PV patients (8 men and 11 women) and 6 healthy controls (3 men and 3 women). Men had twice as many up-regulated or down-regulated genes as women, but 102 genes had concordant differential regulation and were further evaluated to determine whether they distinguished PV patients from controls.
Hierarchical clustering showed t…