Preferred Label : Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal
edema;
Symbol : DHS1;
CISMeF acronym : DHS; DHS1; PSHK1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : PSHK1; Pseudohyperkalemia, familial, 1, due to red cell leak; DHS; Dehydrated hereditary stomatocytosis; Desiccytosis, hereditary; Pseudohyperkalemia edinburgh; Xerocytosis, hereditary;
Description : Hereditary xerocytosis, also known as dehydrated hereditary stomatocytosis (DHS),
is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration.
DHS erythrocytes exhibit decreased total cation and potassium content that are not
accompanied by a proportional net gain of sodium and water. DHS patients typically
exhibit 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 (summary by Zarychanski et al., 2012). Patients
may also show perinatal edema and pseudohyperkalemia due to loss of K from red cells
stored at room temperature. A minor proportion of red cells appear as stomatocytes
on blood films. Complications such as splenomegaly and cholelithiasis, resulting from
increased red cell trapping in the spleen and elevated bilirubin levels, respectively,
may occur. The course of DHS is frequently associated with iron overload, which may
lead to hepatosiderosis (summary by Albuisson et al., 2013). The 'leaky red blood
cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium
when stored at room temperature, manifesting as apparent hyperkalemia. The red blood
cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of
cation content and transport show a marginal increase in permeability at 37 degrees
C and a degree of cellular dehydration, qualitatively similar to the changes seen
in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive
leak of potassium has an abnormal temperature dependence, such that the leak is less
sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).
- Genetic Heterogeneity of Hereditary Stomatocytosis Another form of stomatocytosis
involving familial pseudohyperkalemia has been mapped to chromosome 2q35 (609153).
There is also an overhydrated form of hereditary stomatocytosis (OHS; see 185000).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the PIEZO1 ion channel gene (PIEZO1, 611184.0001);
Laboratory abnormalities : Iron overload (in some patients); Pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients); Decreased serum haptoglobin (in some patients); Increased serum ferritin (in some patients); Increased serum bilirubin (in some patients);
Prefixed ID : #194380;
Origin ID : 194380;
UMLS CUI : C4551512;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
