Research Progress of Diagnosis of Hereditary Spherocytosis

Abstract

Hereditary spherocytosis (HS) is the most common inherited disease of red cell membrane defects.Because of clinical characteristics,membrane protein defects and heterogeneity of genetic in HS,HS could be easily misdiagnosis.Currently,the progress of HS diagnosis is mainly focused on improving the sensitivity and specificity in detected of spherical red blood cells and cell membrane defects,but there is no single indicator can diagnose all HS.Eosin-5-maleimide binding test joint acidification glycerol dissolution test is the highest sensitivity combination test,and this method can be detected light and well compensated HS.Blood parameter analysis,blood smears and other tests are good for HS early screening.In this article,we review the historical origins,incidence,relationship between membrane protein defects and clinical manifestations,and the latest developments of laboratory tests in HS as follows. Key words: Spherocytosis, hereditary; Anemia; Anemia, hemolytic; Membrane proteins; diagnosis