Management of Conditions Characterized by Spherocytes
For hereditary spherocytosis (the primary condition causing spherocytes), splenectomy is the definitive treatment that eliminates anemia and hyperbilirubinemia, though timing and extent must be carefully considered based on disease severity and patient age. 1, 2
Initial Diagnostic Confirmation
When spherocytes are identified on peripheral blood smear, confirm the diagnosis through:
- Complete blood count with reticulocyte count to assess hemolysis severity 3
- Eosin-5-maleimide (EMA) binding test as the preferred confirmatory test 3
- Acidified Glycerol Lysis Time (AGLT) as an alternative specific test 3
- Osmotic fragility test provides supportive evidence, though may be negative in atypical cases 4
- Genetic testing when classical features are absent or diagnosis remains unclear, particularly for SPTA1, SPTB, ANK1, SLC4A1, and EPB42 gene mutations 2, 4
Surgical Management: Splenectomy
Indications for Splenectomy
Splenectomy is indicated for virtually all patients with moderate to severe hereditary spherocytosis 1, 2. The procedure:
- Removes the primary site of spherocyte destruction 1, 2
- Achieves clinical cure of anemia in most patients (except those with recessive inheritance) 1
- Eliminates hemolysis-related complications 1
- Reduces risk of future pigment gallstone formation 1
Timing Considerations
Delay splenectomy until after 6 years of age whenever possible to minimize overwhelming post-splenectomy sepsis risk 1. However, earlier intervention may be necessary for:
- Life-threatening hemolytic episodes 5
- Recurrent splenic sequestration crises 5
- Severe transfusion-dependent anemia 4
Critical warning: Avoid acute overtransfusion to hemoglobin >10 g/dL in patients with splenic sequestration 5
Total vs. Partial Splenectomy
Partial splenectomy represents a feasible alternative that aims to:
- Retain splenic immunologic function 3, 6
- Decrease hemolysis rate 3
- Reduce infection risk compared to total splenectomy 3, 6
The choice between total and partial splenectomy remains controversial, as long-term outcomes require further clarification 3, 6. Most studies demonstrate qualitative resolution of anemia and reduced transfusion requirements with either approach 3.
Preoperative Vaccination Protocol
Vaccinate against encapsulated organisms at least 2 weeks before elective splenectomy 5:
- Pneumococcal vaccine 5
- Haemophilus influenzae type b vaccine 5
- Consider meningococcal vaccine (standard practice, though not explicitly mentioned in provided guidelines)
Intraoperative Considerations
Identify and remove all accessory spleens during splenectomy to prevent recurrent hemolysis 1
Perform concurrent cholecystectomy if gallstones are present 1, as pigment gallstone incidence increases with patient age and is uncommon before 10 years 1
Management of Mild/Asymptomatic Cases
For patients with well-compensated hemolytic anemia or asymptomatic disease 2:
- Monitor for complications (cholelithiasis, hemolytic episodes, aplastic crises) 2
- Avoid unnecessary splenectomy in young children with mild phenotype 6
- Reassess risks versus benefits carefully, as splenectomy carries lifelong infection risk 2, 6
Special Populations
Patients with recessive inheritance patterns benefit significantly from splenectomy but anemia is not completely corrected 1
Patients with novel or compound heterozygous mutations (such as SPTA1 variants) may present with severe phenotypes requiring early transfusion support and eventual splenectomy 4
Post-Splenectomy Outcomes
- Spherocytosis persists on blood smear (morphologic abnormality unchanged)
- Hemolysis is alleviated
- Clinical cure of anemia achieved in most patients
- Lifelong increased infection risk remains