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MLAB 1415: Hematology Keri Brophy-Martinez
Chapter 15: Hemolytic Anemia: Membrane Defects
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Introduction Defects due to abnormalities in membrane proteins or lipids Defects alter membrane’s stability, shape, deformability and permeability Hemolysis occurs extravascularly
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Overview: Membrane Defects
Skeletal protein abnormalities Vertical Separating of lipid bilayer from skeletal lattice Result in decrease in surface area-to-volume ratio..spherocyte Horizontal Disruption of skeletal lattice Membrane destabilizes Cell fragmentation..poik Lipid composition abnormalities Excess cholesterol accumulates in the outer bilayer of the RBC Acanthocyte
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Conditions Associated with Membrane Defects
Hereditary spherocytosis Hereditary elliptocytocytosis Hereditary pyropoikilocytosis Overhydrated and dehydrated hereditary stomatocytosis Membrane lipid disorders Paroxysymal noctural hemoglobinuria
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Disorders Hereditary spherocytosis (HS) Defect in ankyrin & spectrin
Results in the formation of fragile spherocytic red cells. Spherocyte becomes less flexible and more permeable to Na+ Tends to affect Northern Europeans Inherited
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Clinical Findings Varies in severity Compensated hemolytic disease
No anemia Intermittent jaundice Splenomegaly Cholelithiasis: pigment bile stones from increased bilirubin breakdown
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Lab Features CBC RBC morphology Mild anemia
MCV is usually normal (77-87fL) MCH normal MCHC is >36% (This is the only condition in which an MCHC can be truly increased.) RBC morphology Spherocyte Varying degrees of polychromasia, anisocytosis and poikilocytosis
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Lab Features Bone Marrow Normoblastic erythroid hyperplasia
Increased iron storage Chemistry Increased Bilirubin Fecal urobilinogen LD Decreased Haptoglobin Immunohematology DAT negative
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Diagnostic tests for HS
Osmotic fragility - ↑ Cells are incubated in decreasing concentrations of NaCl. Spherocytes lyse sooner than normal red cells. Autohemolysis test Red cells are incubated at 37̊ C for 48 hours. Degree of hemolysis is increased when spherocytes are present. Red cell membrane studies Membrane proteins are analyzed using gel electrophoresis.
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Treatment of HS Splenectomy
Corrects for the anemia, but the membrane defect remains
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Disorders Hereditary elliptocytosis
A defect of one of the skeletal proteins Results in the formation of fragile elliptocytic red cells that are sensitive to mechanical stress. More permeable to Na+ Tends to affect blacks, especially in Africa
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Clinical findings Hemolysis not evident Anemia not characteristic
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Lab Features CBC RBC morphology Mild anemia Hgb level increased
Elliptocytes or ovalocytes
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Treatment of HE Treatment is usually not necessary, but if patients have hemolysis, splenectomy is beneficial.
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Disorders Hereditary pyropoikilocytosis (HPP) Severe subtype of HE
Deficiency of α-spectrin and a mutant spectrin leads to disruption of skeletal lattice and cell destabilization Cells fragment when heated Tends to affect blacks Presents in infancy or early childhood
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Clinical Findings Hyperbilirubinemia
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Lab Features CBC RBC morphology MCV decreased (25-55 fL)
Extreme erythrocyte morphologies Fragments, elliptocytes, triangulocytes etc
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Treatment of HPP Splenectomy
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Disorders Hereditary Stomatocytosis Syndromes No treatment required
Overhydrated Hereditary Stomatocytosis (OHS) Permeable to Na+ and K+, cell takes on water Cells resemble stomatocytes Dehydrated Hereditary Stomatocytosis (DHS) Water content decreased causing cell dehydration so cells look like targets No treatment required
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Lab Features Anemia is mild to moderate Increased bilirubin
MCV increased Stomatocytes: OHS Target cells: DHS
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Referenes Harmening, D. M. (2009). Clinical Hematology and Fundamentals of hemostasis (5th ed.). Philadelphia, PA: F.A. Davis Company. McKenzie, S. B. (2010). Clinical Laboratory Hematology (2nd ed.). Upper Saddle River, NJ: Pearson Education, Inc.
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