Other Investigations

Should none of the above tests suggest a diagnosis of either PV or a secondary erythrocytosis then further more specialized tests may be undertaken. An oxygen dissociation curve can be performed to measure the P50 and identify patients with a high affinity hemoglobin. Any abnormality should prompt further investigations to identify the Hb, including Hb electrophoresis and direct sequencing. The Epo receptor gene may be assessed for truncating mutations (see pathogenesis) if this facility exists. The current limitation of using X-chromosome inactiva-tion patterns in elderly women has been discussed previously. However, it may have a place in supporting a diagnosis of PV in young women. Similarly platelet and megakaryocyte Tpo levels may have a place in the differentiation of PV from secondary erythrocytoses, but until methodologies are standardized this is also currently only a research tool.

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