Eosin-5′-maleimide (EMA) binding test in hereditary red blood cell membrane defects patients in Chulalongkorn Memorial Hospital

Abstract

Objective: Hereditary red blood cell membrane defects are inherited disease due to mutations in various membrane or skeletal proteins. The common congenital red blood cell membrane defects included hereditary spherocytosis (HS), southeast asian ovalocytosis (SAO), hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP). The old and the classic methods used for the diagnosis is based on osmotic fragility test (OFT). OFT is labor intensive and lack of sensitivity. We evaluated the performance the Eosin-5′-maleimide (EMA) binding test to replace the classic OFT.
Method: Fourteen patients with hereditary red blood cell membrane defects (7 cases with HS, 4 cases with SAO and 3 cases with HE) were enrolled. All these patients and 39 cases of other hemolytic anemia underwent EMA binding test. 93 cases were analyzed as the
control group.
Result: In the EMA binding test, %Mean Fluorescence Intensity (MFI) in HS cases = 68.08 (SD 8.54), HE cases = 89.36 (SD 5.57), other hemolytic anemia cases = 96.10 (SD 6.94) and normal control groups = 100.33 (SD 5.55), respectively. In HS and SAO cases, the
%MFI were significantly low compared to HE cases, other hemolytic anemia cases and normal control groups, respectively (P < .001). Conclusion: EMA binding test was an accurate and relative faster method to confirm diagnosed HS and SAO.