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Incubated osmotic fragility test does not exclude red blood cell membrane disorders! About a case of hereditary elliptocytosis.


Annales de Biologie Clinique. Volume 64, Number 5, 491-5, Septembre 2006, Pratique quotidienne

DOI : 10.1684/abc.2006.0010

Résumé   Summary  

Author(s) : J Perrin, M Marchand-Arvier, V Latger-Cannard, C Vigneron, T Lecompte , Hématologie biologique, secteur exploration fonctionnelle cellulaire, CHU de Nancy, Hôpital de Brabois, 54511 Vandœuvre-lès-Nancy cedex, France.

Summary : 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.

Keywords : hereditary elliptocytosis, incubated osmotic fragility, spectrin, membrane disorders, cigar-shaped erythrocytes

Pictures

Figure 1 Frottis sanguin réalisé chez Saïda (à l’âge de 30 mois) (MGG, grossissement × 63).

Figure 2 Étude rhéologique réalisée chez Saïda ; résistance globulaire osmotique (A) et test d’élongation Lorca®(B).

Figure 3 Frottis sanguin réalisé chez la mère (MGG, grossissement × 63).

Figure 4 Étude rhéologique réalisée chez la mère ; résistance globulaire osmotique (A) et test d’élongation Lorca®(B).

Figure 5 Schéma simplifié de la membrane érythrocytaire. Ank : ankyrine ; GPA : glycophorine A ; GPC : glycophorine C ; α : α-spectrine ; β : β-spectrine.


 

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