title: [Incubated osmotic fragility test does not exclude red blood cell membrane disorders! About a case of hereditary elliptocytosis].
abstract: We report a case of hereditary elliptocytosis in an infant diagnosed a few months after the birth, in a context of regenerative normocytic normochromic anaemia. The investigations, including incubated osmotic fragility, erythrocytic enzymes study and haemoglobin electrophoresis, were not contributive. Only the persistence of elongated (or cigar-shaped) erythrocytes on blood smears was noted. Hereditary elliptocytosis was confirmed by specialized investigations (rheological study and erythrocytic membrane proteins electrophoresis). Investigations in the mother were realized and led to the discovery of a similar biological pattern. Hereditary elliptocytosis is a red blood cell membrane disorder due to the defect in cytoskeleton proteins (spectrin or 4.1), leading to the loss of deformability properties of erythrocytes. This disorder is considered as rare; however, its incidence is probably underestimated because most cases are pauci- or asymptomatic and the discovery is often fortuitous. The absence of detection of this defect by incubated osmotic fragility should not discard the hypothesis of erythrocytes membrane disorders. The persistent observation of elongated erythrocytes on blood smear must encourage the biologist to evocate a hereditary elliptocytosis.
authors.affiliation: Hématologie Biologique, Secteur Exploration Fonctionnelle Cellulaire, CHU de Nancy, Hôpital de Brabois, 54511 Vandoeuvre-lès-Nancy cedex, France. julien_perrin_3@hotmail.com
authors.forename: J
authors.initials: J
authors.lastname: Perrin
authors.forename: M
authors.initials: M
authors.lastname: Marchand-Arvier
authors.forename: V
authors.initials: V
authors.lastname: Latger-Cannard
authors.forename: C
authors.initials: C
authors.lastname: Vigneron
authors.forename: T
authors.initials: T
authors.lastname: Lecompte
mesh_terms: D001797:Blood Protein Electrophoresis; D003937:Diagnosis, Differential; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000175:diagnosis*; D004907:Erythrocyte Deformability; D004910:Erythrocyte Membrane; D005260:Female; D018056:Hemorheology; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000032:analysis; D009996:Osmotic Fragility; D013049:Spectrin
chemical_list: D008565:Membrane Proteins; D013049:Spectrin