Authors
Nada Maaziz, Mathieu Wémeau, Bernard Aral, Patrick Callier, Betty Gardie, François Girodon
Published in
La Revue de medecine interne. Jul 03, 2026. Epub Jul 03, 2026.
Abstract
The association of erythrocytosis, splenomegaly, and iron overload represents a complex diagnostic situation that may reveal hereditary stomatocytosis related to a PIEZO1 mutation.
We report the case of a 76-year-old patient presenting with erythrocytosis, iron overload, and splenomegaly. The initial etiological workup was unremarkable. The identification of chronic hemolysis, associated with a decreased oxygen partial pressure at which 50% of haemoglobin is saturated with oxygen (venous P50) and abnormalities in erythrocyte deformability, guided further molecular investigations. Next-generation sequencing (NGS) identified a heterozygous pathogenic PIEZO1 mutation, confirming the diagnosis of stomatocytosis.
This case highlights a misleading presentation of chronic hemolysis masked by polycythemia. Venous P50 appears to be a key discriminating marker. An integrated approach combining biological and molecular analyses is essential to avoid diagnostic delay.
PMID:
42399135
Bibliographic data and abstract were imported from PubMed on 04 Jul 2026.
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