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Hereditary Xerocytosis

Hereditary xerocytosis (HX), also known as dehydrated hereditary stomatocytosis, is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis

Prevalence

<1 / 1 000 000

300–1,000

US Estimated

450–1,500

Europe Estimated

Age of Onset

Antenatal

ICD-10

D58.8

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Hereditary xerocytosis is a rare autosomal dominant hemolytic anemia caused by mutations in PIEZO1 or, more rarely, KCNN4, affecting red blood cell volume regulation and dehydration

FACT

Peripheral blood smears show stomatocytes and xerocytes, though these may be sparse; ektacytometry and osmotic gradient ektacytometry are often required for confirmation

FACT

Patients typically present with mild to moderate hemolytic anemia, reticulocytosis, and elevated mean corpuscular hemoglobin concentration (MCHC), but often maintain near-normal hemoglobin levels

FACT

Splenectomy is contraindicated in HX due to a significantly increased risk of thromboembolic events post-procedure, distinguishing it from other hereditary hemolytic anemias

FACT

Complications may include iron overload (even without transfusions), perinatal edema, and pseudohyperkalemia, requiring multidisciplinary monitoring and individualized management

Interest over time

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