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Spherocytosis, Type 1 MeSH Supplementary Concept Data 2022


MeSH Supplementary
Spherocytosis, Type 1
Unique ID
C567159
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C567159
Entry Term(s)
Congenital Spherocytic Hemolytic Anemia
Congenital Spherocytosis
SPH1
Spherocytic Anemia
Spherocytosis, Hereditary, 1
Registry Number
0
Heading Mapped to
*Spherocytosis, Hereditary
Ankyrins / *deficiency
Frequency
159
Note
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 of Entry
2012/11/05
Revision Date
2015/08/18
Spherocytosis, Type 1 Preferred
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