Partial deficiencies of erythrocyte spectrin in hereditary spherocytosis

P Agre - Red Blood Cell Membranes, 2020 - taylorfrancis.com
Red Blood Cell Membranes, 2020taylorfrancis.com
Hereditary spherocytosis is a congenital hemolytic anemia that has been a longstanding
puzzle to hematologists and geneticists (see recent reviews [1–3]). It is a common disorder
affecting~ 1 in 5000 individuals of Northern European ancestry [4]. The genetic defect is
incompletely defined but results in erythrocytes that are abnormally fragile and become
increasingly spherical rather than retaining the normal biconcave disk shape.
Hereditary spherocytosis is a congenital hemolytic anemia that has been a longstanding puzzle to hematologists and geneticists (see recent reviews [1–3]). It is a common disorder affecting ~1 in 5000 individuals of Northern European ancestry [4]. The genetic defect is incompletely defined but results in erythrocytes that are abnormally fragile and become increasingly spherical rather than retaining the normal biconcave disk shape.
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