Hereditary spherocytosis (HS) is a disease involving five membrane proteins that are in close contact with each other in the red cell membrane. The objective of this guideline is to provide healthcare professionals with clear guidance on the management of hereditary spherocytosis. Diagnostic testing: Newly diagnosed patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised MCHC, increase in reticulocytes) do not require any additional tests. If the diagnosis is equivocal, a screening test with high predictive value for HS is helpful.
The recommended screening tests are the cryo-hemolysis test and eosine-5-maleimide (EMA) binding. Gel electrophoresis analysis of erythrocyte membranes is the method of choice for diagnosis of atypical cases. When the clinical phenotype is more severe than predicted from the red cell morphology. When…
