Xerocytosis, hereditary [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536764
Heading Mapped to:
Entry Terms:
- Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis
- Dehydrated hereditary stomatocytosis
- Hereditary Xerocytosis
- Desiccytosis, hereditary