Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?

Abstract

Hereditary spherocytosis (HS) is the most common inherited chronic haemolytic anaemia in Northern Europe. During the last decade, additional erythrocyte and reticulocyte parameters have been developed on last-generation haematology analysers, leading to many publications about their effectiveness as a HS screening tool. For the first time on an independent cohort, we evaluated and compared the effectiveness of six published algorithms for the screening of HS using the UniCel DxH800 (Beckman-Coulter) and the XN-9000 (Sysmex) and determined which algorithm could be the most suitable in our daily clinical practice. A total of 95 EDTA samples were analysed prospectively on both haematology analysers. These included 11 confirmed HS patients and 84 non-HS patients. The specific reticulocyte parameters used on the DxH800 were mean reticulocyte volume, immature reticulocyte fraction and mean sphered cell volume, and on the XN-9000 were hypohaemoglobinised erythrocytes, microcytic erythrocytes and immature reticulocyte fraction. The three algorithms using parameters specific to Beckman-Coulter analysers provided a sensitivity of 100% with various specificities, ranging from 7.1 to 73.8%. The three algorithms published based on the parameters specific to Sysmex showed much lower performances, i.e. out of the 11 patients with HS, between one to five patients were screened as negative for HS. However, 100% sensitivity and specificity were reached using the EMA binding test concomitantly with those three algorithms. The algorithms using reticulocyte and erythrocyte parameters offered by the recent analysers are promising options as a HS first-tier screening tool. Nevertheless, they must be evaluated by each laboratory on their own analyser before implementation.