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Case 265 - Discussion

Uploaded: 2012-06-06, Updated: 2012-06-06

 

Hereditary Spherocytosis

  • Mutations:

    • Ankyrin-1: ANK1, AD, 60%, severe

    • Band 3: SLCA1, AD, 20%, mild

    • Spectrin: SPTB, AD, 20%, most severe

    • Protein 4.2: EPB42, AR

  • Most common RBC disorder in Northern European descent

  • Extravascular hemolysis, jaundice, and splenomegaly

  • ↑ MCHC, variable MCV, reticulocytosis

  • Positive osmotic fragility test

  • Flow cytometry: Eosin 5'-maleimide (EMA) to detect band 3

  • DDX: autoimmune hemolytic anemia DAT+, ↓ MCV