Esferocitosis hereditaria: Revisión. Parte I. Historia, demografía, etiopatogenia y diagnóstico. / [Hereditary spherocytosis: Review. Part I. History, demographics, pathogenesis, and diagnosis].

ABSTRACT

Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.