Laboratory Diagnosis of Hereditary Spherocytosis: Literature Review and Case Report

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Laboratorinė medicina. 2019,
t. 21,
Nr. 2,
p. 56 -

Hereditary spherocytosis is the most common inherited red blood cell membrane disorder in individuals of northern European ancestry with an incidence of 1 case per 2000-5000 individuals. Deficiency or dysfunction of erythrocyte membrane proteins (ankyrin, band 3, α and β spectrins, protein 4.2) result in weakened interactions between the lipid bilayer and membrane skeleton leading to formation of spherocytes with decreased deformability and increased osmotic fragility. Premature splenic destruction of abnormal spherocytes is a primary cause of hemolysis in hereditary spherocytosis. The disorder is typically characterised by anemia, jaundice and splenomegaly, however, the clinical presention and course of disease is highly variable ranging from asymptomatic forms with fully compensated hemolysis to occasionally severe forms, requiring periodic blood transfusions and/or splenectomy. A diagnostic workout is based on a family history, physical examination, general laboratory tests (complete blood count, reticulocyte count, examination of erythrocyte morphology) and a combination of cause-oriented special diagnostic tests (osmotic fragility tests, flow cytometry, ektacytometry, cryohemolysis test, elertrophoresis of red blood cell membrane proteins and molecular testing for genetic mutations within genes encoding erythrocyte plasma membrane proteins. This review highlights current understanding of disease pathophysiology, genetics and clinical features. Particular attention is given to a wide spectrum of laboratory assays (screening as well as confirmatory) emphasizing their advantages and disadvantages. Here in we also present a clinical case of aplastic crisis due to human parvovirus infection in a child with hereditary spherocytosis.

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