Polycythemia Vera: Stem-Cell and Probable Clonal Origin of the Disease

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Abstract
Two women with polycythemia vera and heterozygosity (Gd B/Gd A) at the X-chromosomelinked locus for glucose-6-phosphate dehydrogenase were studied to determine the nature of the cellular origin of their polycythemia. In contrast to unaffected tissue, such as skin fibroblasts, which consisted of both B and A types, the glucose-6-phosphate dehydrogenase of the patients' erythrocytes, granulocytes and platelets was only of Type A. These results provide direct evidence for the stem-cell nature of polycythemia vera and strongly imply a clonal origin for this disease. The fact that no descendants of the presumed normal stem cells were found in circulation suggests that bone-marrow proliferation in this disorder is influenced by local (intramarrow) regulatory factors. (N Engl J Med 295:913–916, 1976)