Hereditary Spherocytosis

Outline

Background

• Hereditary disorder (genetic mutation) causes body to RBC the incorrect shape which are destroyed in the spleen 

• Spherocytosis refers to the fact the RBC are spheres rather than discs

• Associated with black pigment gallstones

Assessment

Presentation

• Lethargy

• Family history or paediatric presentation

• Parvovirus B19 infection can result in aplastic crisis- sudden reduction in RBC production

Examination

• Anaemia +- jaundice

• Splenomegaly

• Cholecystectomy scars (laproscopic)

Investigations

• Blood film: sphere RBCs (spherocytes)

• Haemolytic anaemia: low Hb & haptoglobin, raised LDH and reticulocytes

• Red cell osmotic fragility test: fragile ++

Diagnosis

Diagnosis: osmotic fragility test +ve

Management

Acute: RBC transfusions

Chronic: manage complications

• Monitor Hb, aim > 70-80

• PO folic acid- increase demand due to RBC turnover

• Splenectomy an option

Deeper Dive

Diagnostic criteria

 4 minor or 1 major

• 4/4

  • Co-ombs negative haemolysis

  • Raised MCV

  • Positive history

  • Spherocytes on microscopy

OR

• x1 Specialist test: osmotic fragility, EMA, AGLT 

Links

Pathology: Genetic 

Specialty: Haematology 

References

1. Zamora EA, Schaefer CA. Hereditary Spherocytosis. [Updated 2023 Jul 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK539797/

Written in 2026