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
Heading Mapped to:
Entry Terms:
- SPH1
- Congenital Spherocytosis
- Spherocytic Anemia
- Spherocytosis, Hereditary, 1
- Congenital Spherocytic Hemolytic Anemia