Additional erythrocytic and reticulocytic parameters helpful for diagnosis of hereditary spherocytosis: results of a multicentre study
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Hereditary spherocytosis (HS) is characterised by weakened vertical linkages between the membrane skeleton and the red blood cell’s lipid bilayer, leading to the release of microparticles. All the reference tests suffer from specific limitations. The aim of this study was to develop easy to use diagnostic tool for screening of hereditary spherocytosis based on routinely acquired haematological parameters like percentage of microcytes, percentage of hypochromic cells, reticulocyte counts, and percentage of immature reticulocytes. The levels of haemoglobin, mean cell volume, mean corpuscular haemoglobin concentration, reticulocytes (Ret), immature reticulocytes fraction (IRF), hypochromic erythrocytes (Hypo-He) and microcytic erythrocytes (MicroR) were determined on EDTA samples on Sysmex instruments from a cohort of 45 confirmed SH. The HS group was then compared with haemolytical disorders, microcytic anaemia, healthy individuals and routine samples (n = 1,488). HS is characterised by a high Ret count without an equally elevated IRF. All 45 HS have Ret >80,000/μl and Ret(109/L)/IRF (%) greater than 7.7 (rule 1). Trait and mild HS had a Ret/IRF ratio greater than 19. Moderate and severe HS had increased MicroR and MicroR/Hypo-He (rule 2). Combination of both rules gave predictive positive value and negative predictive value of respectively 75% and 100% (n = 1,488), which is much greater than single parameters or existing rules. This simple and fast diagnostic method could be used as an excellent screening tool for HS. It is also valid for mild HS, neonates and ABO incompatibilities and overcomes the lack of sensitivity of electrophoresis in ankyrin deficiencies.
KeywordsHereditary spherocytosis Reticulocyte Microparticles Ankyrin
François Mullier is a FRIA researcher. The authors wish to thank all participating haematological centres: Catherine Bardiau (Huy, Belgium), Christophe Chantrain (Bruxelles and Mont-Godinne, Belgium), Andre Delattre (Verviers, Belgium), Andre Gothot (Liege, Belgium), Jean-Sebastien Goffinet (Bruxelles, Belgium), Vincent Hennaux (Gilly, Belgium), Olivier Ketelslegers (Liege, Belgium), Salah-eddine lali (Verviers, Belgium), Jacques Mairesse (Ottignies, Belgium), Jean-Marc Minon (Liège, Belgium) and David Tuerlinckx (Mont-Godinne, Belgium) Lydie Da Costa (Paris, France), Françoise Schillinger (Besançon, France).
Authorship and disclosures
F.M. and B.C conceived the idea and designed the study protocol; F.M and B.C. analysed the Sysmex data and together with N.B and Y.C analysed cryohemolysis and flow cytometric data. E.L., O.F. and L.D. analysed ektacytometry data and together with F.S. contributed with provision of study material or patients. F.M. and B.C. collected, assembled data and interpreted the data; F.M. performed statistical analysis, F.M, B.C, C.C and J.-M.D. wrote the manuscript; and all authors reviewed and approved the manuscript. The authors declare no competing financial interests.
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