Disease - Dehydrated hereditary stomatocytosis 2
- DefinitionAn autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur.
- AcronymDHS2
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Browse 1 entry- Intermediate conductance calcium-activated potassium channel protein 4 · Gene: KCNN4 (IK1, IKCA1, KCA4, SK4) · Homo sapiens (Human) · 427 amino acids · Evidence at protein level · Annotation score: 5/5