What is the role of abnormal erythrocyte morphology in the workup of hereditary hemolytic anemias?

Updated: Nov 26, 2019
  • Author: Joseph E Maakaron, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Even in certain rare disorders, abnormal erythrocyte morphology may provide an important clue. Examples are acanthocytosis in abetalipoproteinemia, stomatocytosis in the hereditary disorder of this name, and numerous target cells in lecithin cholesterol acyltransferase deficiency. Other laboratory studies of value in the hereditary hemolytic disorders include the following: [14]

  • Hereditary spherocytosis - MCHC greater than 36%, incubated osmotic fragility in oxalate, and detection of the underlying molecular defect

  • Hemoglobinopathies - Sickle cell preparation, Hb electrophoresis at 1 or more pH, heat denaturation test for unstable Hbs, oxygen disassociation for Hbs with abnormal oxygen affinity

  • Thalassemia - A2 and fetal Hb, Hb electrophoresis, characterization of the molecular defect, quantification of alpha and beta chains

  • Congenital dyserythropoietic anemias - Demonstration of abnormalities of erythroid precursors in bone marrow aspirates, positive acid hemolysis (Ham) test, with normal result of sucrose hemolysis test in one form of this disease (hereditary erythroblastic multinuclearity with a positive acidified serum test [HEMPAS])

  • Hereditary RBC enzymatic deficiencies - Specific RBC enzyme assay

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