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Clinical classification of hereditary elliptocytosis variants

Clinical classification of hereditary elliptocytosis variants
  Common hereditary elliptocytosis (HE) Hereditary pyropoikilocytosis (HPP) Spherocytic elliptocytosis Southeast Asian ovalocytosis (SAO)
Heterozygous Homozygous or compound heterozygous (hemolytic HE)
Anemia None to minimal Moderate to severe Severe Mild to moderate None
Hemolysis None to mild; may have transient hemolysis during early infancy Moderate to severe Severe Mild to moderate None to mild; may have transient hemolysis during early infancy
Splenomegaly Absent Present Present Present Absent
Peripheral blood smear and mean corpuscular volume (MCV) Elliptocytes; MCV normal; may have transient poikilocytosis during early infancy Elliptocytes, red blood cell (RBC) fragments, and microelliptocytes; MCV low RBC budding and fragments, microspherocytes, and microelliptocytes; MCV very low (30 to 50 fL) Spherocytic elliptocytes; no fragments; MCV low Rounded ovalocytes and stomatocytic elliptocytes (with one or two transverse bars); MCV normal
Osmotic gradient ektacytometry Diminished deformability, indented plateau Severely diminished deformability, indented plateau Greatly diminished deformability; right-shifted Di-min or O-min, reflecting spherocytosis Should have right-shifted Di-min or O-min, reflecting spherocytosis Greatly diminished deformability
EMA binding Normal Normal, with a tail of diminished binding if RBC fragments are present Greatly diminished Modestly diminished Greatly diminished
Osmotic fragility Normal Increased Increased Increased Normal to decreased
A separate figure in UpToDate illustrates typical tracings for osmotic gradient ektacytometry and EMA binding. Refer to UpToDate for details of the evaluation and management of HE.
HE: hereditary elliptocytosis; MCV: mean corpuscular volume; EMA: eosin-5-maleimide; Di: deformability index; RBC: red blood cell.
Modified with permission from: Gallagher PG, Glader B. Hereditary spherocytes, hereditary elliptocytosis, and other disorders associated with abnormalities of the erythrocyte membrane. In: Wintrobe's Clinical Hematology, 13th ed, Lippincott Williams & Wilkins, Philadelphia 2013. Copyright © 2013 Lippincott Williams & Wilkins. www.lww.com.
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