Hereditary Spherocytosis

Department of Haematology

Notes

• Osmotic fragility test no longer performed. See BSCH guidelines for diagnosis and management of hereditary spherocytosis
• Osmotic fragility test is no longer recommended due to lack of both sensitivity (normal results may occur in 10-20% of HS) and specificity (unable to differentiate between immune and non-immune causes of spherocytosis).
• Eosin-5-maleimide (EMA) binding dye test by flow cytometry is now favoured as a screening test (sensitivity 92.7%, specificity 99.1%)
• Samples are referred to the Sheffield Children’s Hospital

Sample Requirements

2ml or 4ml EDTA sample

Turnaround Times

1 week

Reference Ranges

Hereditary Spherocytosis flow cytometry test ratio 0.85-1.30