MeSH Browser

MeSH Supplementary: Xerocytosis, hereditary
Unique ID: C536764
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536764
Entry Term(s): Dehydrated hereditary stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis; Desiccytosis, hereditary; Hereditary Xerocytosis
Registry Numbers: 0
Heading Mapped to: *Anemia, Hemolytic, Congenital; *Hydrops Fetalis
Frequency: 73
Note: An autosomal dominant hemolytic anemia characterized by primary ERYTHROCYTE DEHYDRATION. Patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and decreased osmotic fragility. Hydrops fetalis and pseudohyperkalemia of erythrocytes may also be present, along with complications such as SPLENOMEGALY and CHOLELITHIASIS. Mutations in the PIEZO1 gene have been identified. OMIM: 194380
Date of Entry: 2010/08/25
Revision Date: 2015/11/12

Xerocytosis, hereditary MeSH Supplementary Concept Data 2025