Progress on Laboratory Diagnosis of Hereditary Spherocytosis--Review

Abstract

In recent years, the diagnostic methods of hereditary spherocytosis (HS) have been developed rapidly, including eosin-5'-maleimide (EMA) binding test, flow cytometric osmotic fragility test, osmotic gradient ektacytometry and next-generation sequencing. EMA binding test and flow cytometric osmotic fragility test are recommended as HS screening tests due to their high sensitivity and easy operation. Osmotic gradient ektacytometry has high sensitivity and specificity, thus which can be used to distinguish HS from other hereditary membrane disease, but can not differentiate between HS and auto-immune hemolytic anemia (AIHA) and it is difficult operation, which is used as an intermediate step between screening and diagnostic tests. Next-generation sequencing can detect the molecular defects, identifying the gene encoding defective protein, thus achieving accurate diagnosis. This diagnostic test of HS has become an important diagnostic tool. The development of laboratory diagnosis has reduced misdiagnosis, and significantly improved the level of HS diagnosis.