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9.1: Hereditary Spherocytosis

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    https://pressbooks.library.ualberta.ca/mlsci/?p=547

    Images of hereditary spherocytosis peripheral blood smears demonstrating marked spherocytosis and polychromasia. From MLS Collection, University of Alberta.

    Image 1: 100x oil immersion. https://doi.org/10.7939/R34B2XK9F

    Image 2: 50 x oil immersion. https://doi.org/10.7939/R3HM53096

    Note:

    The hereditary condition results in the formation of spherocytes with a decreased life span, decreased deformability, and a reduced surface-to-volume ratio causing increased osmotic fragility.1

    Mutation:

    Genetic mutations in the vertical protein linkages between the membrane and cytoskeleton: α-spectrin, β-spectrin, band 3, ankyrin, and protein 4.2.1-4 Results in loss of unsupported membrane overtime, and spherocyte formation.

    Inheritance:1,3

    Autosomal dominant or recessive depending on which mutations are inherited.

    Clinical Features:1,3,4

    Jaundice

    Fatigue

    Pallor

    Splenomegaly

    Iron Overload

    Extramedullary erythropoiesis

    Laboratory Results:1-3

    CBC:

    Hb: Decreased

    MCV: Decreased to Normal

    MCH: Normal to Increased

    MCHC: Increased

    (>360 g/L)

    RETIC: Increased

    RDW: Increased

    PBS:

    Spherocytes (Variable amounts)

    Polychromasia

    Increased inclusions (HJ bodies, pappenheimer bodies)

    +/- NRBCs

    BM:

    M:E Ratio: Decreased

    Erythroid Hyperplasia

    Other Tests:

    Osmotic Fragility: Increased

    Eosin -5’-maleimide Binding Test: Decreased fluorescence

    DAT: Negative (AIHA with spherocytes are DAT positive)

    Markers of EVH:

    Bilirubin: Increased

    LD: Increased

    Urobilinogen: Increased

    References:

    1. Gallagher PG. Abnormalities of the erythrocyte membrane. Pediatr Clin North Am [Internet]. 2013 Dec 15 [cited 2018 Jun 26];60(6):1349–62. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155395/

    2. Keohane EM. Intrinsic defects leading to increased erythrocyte destruction. In: Rodak’s hematology clinical applications and principles. 5th ed. St. Louis, Missouri: Saunders; 2015. p. 367–93.

    3. Andolfo I, Russo R, Gambale A, Iolascon A. New insights on hereditary erythrocyte membrane defects. Haematologica [Internet]. 2016 Nov 22 [cited 2018 Jun 26];101(11):1284–94. Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394881/

    4. Da Costa L, Galimand J, Fenneteau O, Mohandas N. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev [Internet]. 2013[cited 2018 Jul 24];27(4):167–78. Available from: http://www.sciencedirect.com/science/article/pii/S0268960X13000192

    This page titled 9.1: Hereditary Spherocytosis was last modified on Fri, 11 Sep 2026 16:40:05 GMT and is shared under a CC BY-NC 4.0 license and was authored, remixed, and/or curated by Valentin Villatoro and Michelle To (Open Education Alberta) via source content that was edited to the style and standards of the LibreTexts platform.