Blood Journal
Leading the way in experimental and clinical research in hematology

Two Cases of Familial Erythrocytosis With Increased Erythropoietin Activity in Plasma and Urine

  1. H. Yonemitsu, M.D.,
  2. K. Yamaguchi, M.D.,
  3. H. Shigeta, M.D.,
  4. K. Okuda, M.D., Professor of Medicine, and
  5. F. Takaku, M.D., Professor of Medicine
  1. First Department of Medicine, Chiba University School of Medicine, Chiba, Japan, and the First Department of Medicine, Jichi Medical School, Tochigi, Japan.
  2. First Department of Medicine, Chiba University School of Medicine. Chiba. Japan (280).
  3. Jichi Medical School, Kawachi, Tochigi Prefecture. Japan.


Two brothers with familial erythrocytosis born to parents of a consanguinous marriage are described. Two other siblings were unaffected. There was a marked increase in erythropoietin concentration in both the plasma and urine, suggesting that a congenital defect led to erythropoietindependent polycythemia. Other causes of polycythemia were excluded.

  • Submitted July 24, 1972.
  • Revision received January 2, 1973.
  • Accepted February 4, 1973.