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Updated: Apr 19, 2026
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Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients
Yi-feng Tao1, Zeng-fu Deng, Lin Liao
1Affiliated Tumor Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Insights
Comparing mean spherical corpuscular volume (MSCV) to mean corpuscular volume (MCV) and flow cytometry osmotic fragility tests are effective screening methods for hereditary spherocytosis (HS). These methods offer high sensitivity and specificity for diagnosing HS.
Area of Science:
- Hematology
- Clinical Diagnostics
Background:
- Hereditary spherocytosis (HS) is a genetic hemolytic anemia.
- Accurate and efficient diagnostic screening methods for HS are crucial.
Purpose of the Study:
- To evaluate and compare the diagnostic value of three screening tests for hereditary spherocytosis (HS).
- To assess the sensitivity and specificity of mean spherical corpuscular volume (MSCV) vs. mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), and flow cytometric osmotic fragility tests.
Main Methods:
- Peripheral blood samples from 237 individuals (56 HS patients, 86 thalassemia patients, 95 healthy controls) were analyzed.
- Three diagnostic tests were performed: MSCV vs. MCV comparison, MCHC measurement, and flow cytometric osmotic fragility test.
- Test performance was evaluated using sensitivity and specificity metrics.
Main Results:
- MCHC >355 g/L showed low sensitivity (41.07%) but high specificity (94.47%).
- MSCV < MCV achieved 89.28% sensitivity and 96.14% specificity.
- Flow cytometric osmotic fragility test yielded 85.71% sensitivity and 97.24% specificity with a threshold of <23.6% residual red cells.
Conclusions:
- Flow cytometry osmotic fragility test and comparing MSCV to MCV are practical and accurate laboratory screening methods for HS.
- These methods, potentially combined with peripheral red blood cell morphology examination, improve HS diagnosis.
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.
