Overview on Hereditary Spherocytosis Diagnosis

A Polizzi; L P Dicembre; C Failla; T Di Matola; M Moretti; S Chiatamone Ranieri; F Papa; A M Cenci; M Buttarello

doi:10.1111/ijlh.14376

Overview on Hereditary Spherocytosis Diagnosis

Int J Lab Hematol. 2024 Oct 28. doi: 10.1111/ijlh.14376. Online ahead of print.

Authors

A Polizzi¹, L P Dicembre², C Failla³, T Di Matola⁴, M Moretti⁵, S Chiatamone Ranieri⁶, F Papa⁷, A M Cenci⁸, M Buttarello⁸

Affiliations

¹ Unità Operativa di Patologia Clinica, Ospedale "R.Guzzardi" Vittoria, ASP di Ragusa, Ragusa, Italy.
² Unità Operativa Multizonale Laboratorio di Patologia Clinica, Dipartimento Laboratori, APSS di Trento, Trento, Italy.
³ Biomedica s.r.l, Laboratorio Analisi Cliniche, Floridia, Italy.
⁴ Laboratorio di Patologia Clinica, Ospedale Buon Consiglio, Fatebenefratelli, Naple, Italy.
⁵ SOD Medicina di Laboratorio, AOU delle Marche, Ancona, Italy.
⁶ Unità Operativa Complessa di Patologia Clinica, Dipartimento dei Servizi, ASL 04 Teramo, Teramo, Italy.
⁷ U.O.C. di Patologia Clinica Ospedale Isola Tiberina - Gemelli Isola, Rome, Italy.
⁸ SIPMEL Castelfranco Veneto, Castelfranco Veneto, Italy.

PMID: 39467036
DOI: 10.1111/ijlh.14376

Abstract

Introduction: Hereditary spherocytosis (HS) is a congenital haemolytic disorder, resulting from plasma membrane protein deficiency of red blood cells (RBCs). Typical pathological signs are anemia, jaundice, and splenomegaly; in newborns, jaundice is the main symptom.

Material and methods: This study focused on the state of art about the HS diagnosis, from traditional to innovative methods, including diagnostic algorithms that can be applied for pediatric and adult patients, for different laboratory diagnostic levels.

Results: The first erythrocyte parameters used for HS diagnosis were the mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), and red blood cell distribution width (RDW); nowadays new parameters are used in blood cell counter. Advia analyzers (Siemens Medical Solutions) supply the hyper-dense cell percentage (% Hyper), which reflects the red blood cells hyperchromia. Sysmex instruments (i.e. XT-4000i, XE-5000, XN-Series) provide the MicroR, that is the percentage of erythrocytes smaller than 60 fL, Hypo-He, which is the percentage of erythrocytes with a content of hemoglobin less than 17 pg and % Hyper-He, which represents the percentage of RBC with cellular hemoglobin content higher than 49 pg. CELL-DYN Sapphire (Abbott Diagnostics) introduced the HPR parameter (% HPR), which represents the erythrocytes with hemoglobin > 410 g/L. Beckman Coulter instruments supply the mean sphered corpuscular volume (MSCV), which is the average volume of all erythrocytes, including mature erythrocytes and reticulocytes. Other reference tests for screening and diagnosis of HS are the acidified glycerol lysis test (AGLT), the eosin-5-maleimide (EMA) binding test and genetic testing by next-generation sequencing.

Conclusions: The diagnostic workup of hereditary spherocytosis could be improved thanks to all the available tests, including new molecular tools. However, it requires synergy between clinicians and laboratory staff, evaluating clinical manifestations, all available data related to the disease and the prognosis to fill the diagnostic gaps in the near future.

Keywords: RBC; RBC membrane; hemolytic anemia; morphology; reticulocytes.

Publication types

Review