Old and new insights into the diagnosis of hereditary spherocytosis
Olga Ciepiela
Abstract
Open-access reader
Olga Ciepiela
Abstract
Open-access reader
Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.
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Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide.
Key concepts: Hereditary spherocytosis, Spherocytosis, Medicine, Anemia, Hemolytic anemia, Pediatrics, Genetic diagnosis, Intensive care medicine