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Spherocytosis, Type 1 [Supplementary Concept]

An autosomal dominant form of hereditary spherocytosis that is characterized by the presence of SPHEROCYTES on the peripheral blood smear. Patients often present with ANEMIA; JAUNDICE and SPLENOMEGALY, resulting in complications that may include CHOLELITHIASIS; HEMOLYSIS, and aplastic crises. Caused by mutations in the ANK1 gene. OMIM: 182900

Date introduced: November 5, 2012

MeSH Unique ID: C567159

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Entry Terms:

  • Spherocytosis, Hereditary, 1
  • Congenital Spherocytic Hemolytic Anemia
  • Congenital Spherocytosis
  • Spherocytic Anemia
  • SPH1

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