Congenital erythrocytosis: a new form associated with an erythropoietin-dependent mechanism.

Abstract:

:Three patients with probable congenital erythrocytosis were studied to determine the role of erythropoietin (ESF) in their disease. In addition, haemoglobin function was measured and ESF excretion determined in response to reduction in the haemoglobin concentration. In two cases ESF excretion was clearly elevated above normal, and in the third excretion was normal even at an elevated PCV. In all, phlebotomy of 15--20% of the blood volume led tomore than doubling in ESF excretion. This occurred in the presence of normal molecular haemoglobin function. Studies of the renal vasculature were normal. These results suggest a new form of congenital erythrocytosis associated with increased ESF production which is reciprocally related to the oxygen carrying capacity of the blood, but in the absence of any demonstrable abnormality in oxygen transport. These findings suggest an inherited defect, likely residing in the renal sensor responsible for the production of ESF. This defect is possible due to impaired recognition of available oxygen or else a decrease in oxygen supply at the subcellular level.

journal_name

Br J Haematol

authors

Whitcomb WH,Peschle C,Moore M,Nitschke R,Adamson JW

doi

10.1111/j.1365-2141.1980.tb01179.x

subject

Has Abstract

pub_date

1980-01-01 00:00:00

pages

17-24

issue

1

eissn

0007-1048

issn

1365-2141

journal_volume

44

pub_type

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