Mean reticulocyte volume: a specific parameter to screen for hereditary spherocytosis

Abstract

This study assessed the value of mean reticulocyte volume (MRV) for differential diagnosis of hereditary spherocytosis (HS) so as to develop conventional and new specific screen indexes. Subjects in this study were divided into three groups: 53 cases in HS group, 217 cases in hemolytic anemia control group (109 cases of thalassemia (THAL), 56 cases of glucose-6-phosphate dehydrogenase G6PD deficiency anemia, and 52 cases of autoimmune hemolytic anemia (AIHA)), and 100 cases in healthy control group. We analyzed erythrocyte and reticulocyte parameters including MRV, mean sphered corpuscular volume, mean corpuscular hemoglobin concentration, and immature reticulocyte fraction. Results demonstrated that MRV was significantly lower in the HS group but significantly higher in the AIHA and G6PD deficiency anemia groups than that in the healthy control group (P = 0.000). MRV was not significantly different between the AIHA and G6PD deficiency anemia groups (P = 0.977) and between the healthy control and THAL groups (P = 0.168). The area under the ROC curve of MRV for diagnosis of HS was 0.942, with a standard error of 0.019, 95% confidence interval of 0.905-0.979, and optimal critical diagnosis point of 95.77 fL. When the MRV was ≤95.77 fL, the sensitivity and specificity for diagnosis of HS were 86.80% and 91.20%, respectively. Therefore, MRV is a general and specific new index for screening HS and important for differential diagnosis of different types of hemolytic anemia.

Blood cell parameters for screening and diagnosis of hereditary spherocytosis

“…MRV ≤ 96.72 fl had a diagnostic sensitivity and specificity of 100% and 88%, respectively. We previously compared blood cell parameters among patients with HS, THAL, AIHA, and G6PD deficiency and identified MRV as a general and specific index for HS screening and for the differential diagnosis of different types of hemolytic anemia . We also found that MRV ≤ 95.8 fl had a diagnostic sensitivity and specificity of 86.8% and 91.2%, respectively.…”

“…Mean corpuscular hemoglobin concentration (MCHC) was included as one of the diagnostic criteria for HS in guideline for the diagnosis and management of HS in 2004, and mean sphered corpuscular volume (MSCV) has also been reported to have diagnostic value in HS . Furthermore, we recently found that mean reticulocyte volume (MRV) was a valuable index for the diagnosis of HS . In this study, we investigated the values of blood cell parameters including MRV, MSCV, MCHC, and absolute reticulocyte count (Ret)/immature reticulocyte fraction (IRF) for the screening and differential diagnosis of HS.…”

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

“…This approach may be suitable for some HS patients with mild clinical symptoms and can be consi­dered a new standard for HS diagnosis. Nevertheless, recent studies have verified that mutations in SLC4A1 and SPTA1 are not specific to HS patients [4, 48, 49]. To identify different types of hemolytic anemia and hepatitis, clinical histories and laboratory tests are needed [3, 4, 48-51].…”

Analysis of the causes of the misdiagnosis of hereditary spherocytosis

“…The value of MRV in the screening of HS was first reported by Lazarova et al (19) in 2014, where they demonstrated that MRV ≤96.72 fl showed 100% sensitivity and 88% specificity for the diagnosis of HS. Moreover, in a study performed on 53 HS patients, 109 thalassemia patients, 56 G6PD deficiency patients, and 52 AIHA patients by Xu et al (20) it was demonstrated that MRV ≤95.77 fl showed 86.8% sensitivity and 91.2% specificity for the diagnosis of HS. The limitations of basic hospitals and insufficient knowledge of clinicians towards HS were the main reasons for misdiagnosis of the proband.…”