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The diagnosis of polycythemia vera (PV) is usually straightforward. Most affected persons have an elevated hemoglobin and hematocrit, and the JAK2 mutation will be present. However, diagnostic difficulties arise when the hemoglobin is only marginally elevated, which occurs early in the disease or in those with chronic bleeding. Such patients might not meet the 2007 World Health Organization (WHO) criteria for the diagnosis of PV (hemoglobin >18.5 g/dL for men and >16.5 g/dL for women; Blood 2007; 110:1092).
To determine whether the WHO criteria identify all patients, investigators studied 30 JAK2-positive PV patients; the mean hemoglobin was 17.2 g/dL (15.6–20.2) in 17 men and 16.8 g/dL (14.4–19.3) in 13 women. An elevated 51chromium-labeled…