Hereditary Spherocytosis (HS)
Yoshihito Yawata
Abstract
Yoshihito Yawata
Abstract
This chapter contains sections titled: Definition and History Clinical and Laboratory Findings Epidemiology and Genetics Pathogenesis: Affected Proteins and Their Related Gene Mutations Combined Partial Deficiency of Spectrin and Ankyrin Due to Ankyrin Gene Mutations Partial Deficiency of Band 3 Due to the Band 3 Gene Mutations Protein 4.2 Deficiency Isolated Partial Spectrin Deficiency Cellular Phenotypes: Spherocytosis and Membrane Transport Role of the Spleen Complications Therapy and Prognosis
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This chapter contains sections titled: Definition and History Clinical and Laboratory Findings Epidemiology and Genetics Pathogenesis: Affected Proteins and Their Related Gene Mutations Combined Partial Deficiency of Spectrin and Ankyrin Due to Ankyrin Gene Mutations Partial Deficiency of Band 3 Due to the Band 3 Gene Mutations Protein 4.2 Deficiency Isolated Partial Spectrin Deficiency Cellular Phenotypes: Spherocytosis and Membrane Transport Role of the Spleen Complications Therapy and Prognosis
Key concepts: Ankyrin, Hereditary spherocytosis, Band 3, Spectrin, Spherocytosis, Phenotype, Pathogenesis, Gene