title: Polycythemia vera: stem-cell and probable clonal origin of the disease.
abstract: Two women with polycythemia vera and heterozygosity (GdB/GdA) at the X-chromosome-linked 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.
mesh_terms: D001792:Blood Platelets / Q000201:enzymology; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D006098:Granulocytes / Q000201:enzymology; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D010641:Phenotype; D011087:Polycythemia Vera / Q000201:enzymology / Q000235:genetics / Q000473:pathology*
chemical_list: D005954:Glucosephosphate Dehydrogenase