Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients

Abstract

The objective of this study is to compare and evaluate the diagnostic value of hereditary spherocytosis (HS) by three screening tests, comparing mean spherical corpuscular volume (MSCV) to mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), and flow cytometric osmotic fragility test. Peripheral blood was collected from 237 participators diagnosed at the First Affiliated Hospital of Guangxi Medical University, including 56 hereditary spherocytosis patients, 86 thalassemia patients, and 95 healthy people. The samples were examined by three tests, and the three screening tests were evaluated by the sensitivity and specificity of tests. The sensitivity was only 41.07%, and specificity was 94.47% when using MCHC >355 g/L as diagnostic criteria. The sensitivity was 89.28%, and specificity was 96.14% when using MSCV < MCV as the optimum cutoff point. When using the residual red cell percentage <23.6% as the diagnostic threshold in flow cytometric osmotic fragility test, the sensitivity was 85.71% and the specificity was 97.24%. Flow cytometry osmotic fragility test or comparing MSCV to MCV combined with smear examination of peripheral red blood cells morphology can be a simple, practical, and accurate hereditary spherocytosis (HS) laboratory screening method.

Flow cytometric osmotic fragility test and eosin‐5’‐maleimide dye‐binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary spherocytosis

“…The cutoff determined for %RRC in the present study was 25.7% and is comparable to the cutoff values reported by Warang et al, Crisp et al, and Tao et al Park et al reported a lower cutoff value of 6.6% as they did not apply the dilution factor. Even if the same dilution factor is applied to this cutoff, the value will be ~12% which is lower than that the cutoffs reported earlier and the present study. The cutoff reported by Shim et al is much higher at %RRC 61.9% and may be due to the different ethnicity of the patients.…”

Blood cell parameters for screening and diagnosis of hereditary spherocytosis

“…In 1999, Chiron et al first reported the diagnostic value of MSCV and MCV for HS, with MSCV < MCV showing 100% diagnostic sensitivity and 93.3% specificity for HS. Broséus et al used MCV‐MSCV > 9.6 fl as a standard, corresponding to 100% diagnostic sensitivity and 90.57% specificity for HS, while Tao et al . reported that MSCV < MCV had a sensitivity of 89.28% and a specificity of 96.14% for the diagnosis of HS.…”

Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

“…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]. Ribeiro et al [52] reported that, in the case of some mutations that can be inherited and lead to severe HS, genetic counseling and prenatal diagnosis can play an extremely important role in prenatal and postnatal care.…”