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Chokri Ben Lamine: Pathophysiology, Diagnosis and Management of Hereditary Spherocytosis
Mar 31, 2026, 15:25

Chokri Ben Lamine: Pathophysiology, Diagnosis and Management of Hereditary Spherocytosis

Chokri Ben Lamine, Adult Hematology and SCT Assistant Consultant at Oncology Center of Excellence at King Faisal Specialist Hospital and Research Center, shared a post on X:

“Hereditary spherocytosis (HS) is an inherited RBC membrane disorder causing loss of membrane surface area, so RBCs become small, dense, spherical, and less deformable leading to they get trapped and destroyed mainly in the spleen.

Common culprit proteins/genes include ankyrin (ANK1), spectrin (SPTA1/SPTB), band 3 (SLC4A1), and protein 4.2 (EPB42). Most cases are autosomal dominant, and about 25% can be sporadic.

Classic clues: chronic hemolysis, anemia, jaundice, splenomegaly, reticulocytosis, and often pigment gallstones.

Severity is variable: some adults are nearly asymptomatic, while others present with symptomatic hemolysis or biliary disease.

A viral infection, especially parvovirus B19, can trigger an aplastic crisis with sudden Hb drop.

Labs / smear pearls

  • Peripheral smear: spherocytes
  • CBC often shows increased MCHC with reticulocytosis
  • Hemolysis profile: increased indirect bilirubin, increased LDH, low haptoglobin
  • DAT/Coombs is negative in HS, which helps separate it from autoimmune hemolytic anemia where spherocytes can also appear.

Diagnosis is sometimes clinical when the picture is classic: family history plus hemolysis plus spherocytes plus increased MCHC plus retics.

If the case is uncertain, useful tests include EMA binding by flow cytometry, osmotic fragility, ektacytometry, or other membrane studies.

EMA is widely used and ARUP lists a clinical sensitivity around 93%; recent transfusion can affect interpretation.

Management

  • Mild/compensated HS: often observe plus monitor
  • Treat acute hemolytic/aplastic crises supportively; transfuse when needed
  • Watch for bilirubin gallstones and folate needs in ongoing hemolysis
  • Splenectomy is the main disease-specific treatment for symptomatic hemolysis or complications such as biliary colic/persistent aplastic crises; it improves anemia and reticulocytosis but does not correct the membrane defect, so spherocytes remain.

Splenectomy pearls

  • Do not rush to splenectomy unless disease burden justifies it
  • Confirm the diagnosis carefully first, especially if the phenotype is atypical
  • Give appropriate vaccination beforehand
  • Remember lifelong concern for post-splenectomy infection, and literature also highlights concern for infectious/thrombotic complications after splenectomy.”

Other posts featuring Chokri Ben Lamine on Hemostasis Today.

 

bleeding disorders Chokri Ben Lamine Health Hematology Hemostasis Hemostasis News Hemostasis Today Hereditary spherocytosis HS inherited RBC membrane disorder Peripheral Smear RBC thrombosis
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