Polycythemia vera: stem-cell and probable clonal origin of the disease

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...

Full description

Saved in:
Bibliographic Details
Published inThe New England journal of medicine Vol. 295; no. 17; p. 913
Main Authors Adamson, J W, Fialkow, P J, Murphy, S, Prchal, J F, Steinmann, L
Format Journal Article
LanguageEnglish
Published United States 21.10.1976
Subjects
Blood Platelets - enzymology
Erythrocytes - enzymology
Female
Glucosephosphate Dehydrogenase - blood
Granulocytes - enzymology
Hematopoietic Stem Cells - pathology
Heterozygote
Humans
Phenotype
Polycythemia Vera - enzymology
Polycythemia Vera - genetics
Polycythemia Vera - pathology
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:0028-4793
DOI:10.1056/NEJM197610212951702