Article
[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature].
La Revue de medecine interne - 1 Mar 2020
Bonnin A, Gardie B, Girodon F, Airaud F, Garrec C, Bézieau S, Vignon G, Mottaz P, Labrousse J, Lellouche F
Abstract excerpt
INTRODUCTION: The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor)...
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