Polizzi A, Dicembre L P, Failla C, Matola T Di, Moretti M, Ranieri S Chiatamone, Papa F, Cenci A M, Buttarello M
Unità Operativa di Patologia Clinica, Ospedale "R.Guzzardi" Vittoria, ASP di Ragusa, Ragusa, Italy.
Unità Operativa Multizonale Laboratorio di Patologia Clinica, Dipartimento Laboratori, APSS di Trento, Trento, Italy.
Int J Lab Hematol. 2025 Feb;47(1):18-25. doi: 10.1111/ijlh.14376. Epub 2024 Oct 28.
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.
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.
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.
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.
遗传性球形红细胞增多症（HS）是一种先天性溶血性疾病，由红细胞（RBC）质膜蛋白缺乏引起。典型的病理体征是贫血、黄疸和脾肿大；在新生儿中，黄疸是主要症状。
本研究聚焦于HS诊断的技术现状，涵盖从传统方法到创新方法，包括可应用于儿科和成年患者的诊断算法，适用于不同实验室诊断水平。
最初用于HS诊断的红细胞参数是平均红细胞血红蛋白浓度（MCHC）、平均红细胞体积（MCV）和红细胞分布宽度（RDW）；如今血细胞计数仪使用了新的参数。Advia分析仪（西门子医疗解决方案公司）提供高密度细胞百分比（% Hyper），它反映红细胞的高色素性。Sysmex仪器（如XT - 4000i、XE - 5000、XN系列）提供MicroR，即小于60 fL的红细胞百分比，Hypo - He，即血红蛋白含量低于17 pg的红细胞百分比，以及% Hyper - He，它代表细胞血红蛋白含量高于49 pg的红细胞百分比。CELL-DYN Sapphire（雅培诊断公司）引入了HPR参数（% HPR），它代表血红蛋白> 410 g/L的红细胞。贝克曼库尔特仪器提供平均球形红细胞体积（MSCV），它是所有红细胞（包括成熟红细胞和网织红细胞）的平均体积。用于HS筛查和诊断的其他参考检测是酸化甘油溶解试验（AGLT）、嗜酸性 - 5 - 马来酰亚胺（EMA）结合试验以及下一代测序基因检测。
借助所有可用检测手段，包括新的分子工具，遗传性球形红细胞增多症的诊断检查工作可以得到改进。然而，这需要临床医生和实验室工作人员协同合作，评估临床表现、与该疾病及预后相关的所有可用数据，以在不久的将来填补诊断空白。
