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.^1-4Results 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