Synopsis
Recognise membrane-related extravascular haemolysis, confirm the phenotype without over-interpreting a single screening assay, manage anaemia and gallstones, and plan splenectomy and infection prevention safely.
- Hereditary spherocytosis is an inherited red-cell membrane disorder causing poorly deformable spherocytes to be trapped and destroyed in the spleen.
- Anaemia, jaundice, splenomegaly, reticulocytosis and pigment gallstones vary from an incidental compensated phenotype to transfusion-dependent disease in infancy.
- A blood film may show dense spherocytes without central pallor, but autoimmune haemolysis also produces spherocytes and must be separated with a direct antiglobulin test.
- Raised mean corpuscular haemoglobin concentration, unconjugated bilirubin and lactate dehydrogenase with low haptoglobin support haemolysis; indices can be subtle between crises.
- Eosin-5-maleimide binding by flow cytometry is a useful confirmatory membrane test in most UK specialist laboratories; equivocal cases may need additional testing or genomic analysis.
- Parvovirus B19 can abruptly suppress reticulocytes, producing a disproportionate haemoglobin fall and sometimes affecting several members of a household.
- Folate is used when erythropoietic demand is substantial, while red-cell transfusion is reserved for symptomatic or severe anaemia rather than a habitual haemoglobin number alone.
- Splenectomy improves haemolysis but does not correct the membrane defect; timing weighs disease burden against lifelong overwhelming infection and thrombotic risk.
- Before elective splenectomy, address pneumococcal, meningococcal and influenza vaccination, antibiotic prophylaxis, fever action planning and a patient-held alert.
- Persistent abdominal pain or cholestatic jaundice warrants gallstone and biliary assessment, particularly in adolescents and adults with longstanding haemolysis.
Key red flags
A sudden profound anaemia with an unexpectedly low reticulocyte count after fever or rash requires urgent haematology assessment.
Investigation priorities
Quantify anaemia and marrow compensation.
Management branches
Anaemia, jaundice or splenomegaly occurs with spherocytes or a family history.
- Obtain blood count, reticulocytes, film, bilirubin, LDH and haptoglobin, documenting transfusion timing and the clinical family pedigree.
- Perform a direct antiglobulin test before attributing spherocytes to inheritance, then request eosin-5-maleimide testing through haematology when the phenotype remains compatible.
- Use broader membrane, enzyme or genomic testing for atypical, severe, transfused or equivocal cases and offer family counselling around the confirmed result.
A person with stable disease develops abrupt pallor, breathlessness, fever or worsening jaundice.
- Assess haemodynamics and cardiac symptoms, repeat haemoglobin and reticulocytes urgently and send group-and-save or cross-match where compromise is possible.
- A high reticulocyte response with bilirubin rise suggests accelerated haemolysis, whereas a low response prompts parvovirus testing and infection precautions in vulnerable contacts.
- Transfuse for clinically important anaemia under haematology and transfusion guidance, reassessing symptoms and avoiding an automatic chronic threshold.
Key medicines
Folic acidHaematology commonly prescribes 5 mg orally once daily when haemolysis is moderate or severe, during pregnancy or when dietary folate may not meet erythropoietic demand.Confirm the indication and consider vitamin B12 status before prolonged treatment; mild compensated disease may not require continuous supplementation.
Phenoxymethylpenicillin after splenectomyA common adult regimen is 250 mg orally twice daily. Start after splenectomy, follow the current asplenia policy for duration and allergy alternatives, and continue lifelong when invasive pneumococcal risk remains high.Check immediate penicillin allergy, adherence and local resistance advice. Prophylaxis and vaccination do not make fever safe to observe at home; provide an emergency antibiotic and assessment plan plus travel and animal-bite advice.