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- Title
Traditionelle und innovative Methoden in der Diagnostik der hereditären Sphärozytose (Kugelzellanämie).
- Authors
Krammer-Steiner, Beate; Steiner, Michael
- Abstract
Hereditary spherocytosis is the most frequently encountered inherited hemolytic anemia among patients of Caucasian ethnic origin. Typical clinical laboratory features include anemia of varying degree, reticulocytosis, hyperbilirubinemia, reduced haptoglobin and increased lactate dehydrogenase activity. Red blood cells are typically described as microspherocytes. However, the presence of spherocytes alone does not confirm the diagnosis of hereditary spherocytosis. The classical diagnostic approach relies on testing red blood cell osmotic resistance or fragility. This test has not been standardized and remains difficult to interpret in neonatal blood samples. The addition of a flow cytometric assay based on reduced binding of eosin-5-maleimide (EMA) to spherocytes has largely improved the diagnostic algorithm. Several investigations have proved its diagnostic usefulness. Minimal sample volumes make the test particularly helpful in neonatal samples. The EMA test can be recommended as method of choice in diagnosing hereditary spherocytosis. The molecular genetic investigation of suspected hereditary spherocytosis remains a challenging method and should be performed in selected cases only.
- Publication
Journal of Laboratory Medicine / Laboratoriums Medizin, 2007, Vol 31, Issue 6, p273
- ISSN
0342-3026
- Publication type
Article
- DOI
10.1515/JLM.2007.047