Conditions / Genetic
dehydrated hereditary stomatocytosis 2
info · Genetic
A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31.
Signs and symptoms
- Acanthocytosis
- Hemolytic anemia
- Increased mean corpuscular hemoglobin concentration
- Bite cells
- Reticulocytosis
- Anisopoikilocytosis
- Splenomegaly
- Thrombocytosis
- Hepatomegaly
- Hyperbilirubinemia
Also known as: desiccytosis Gardos; xerocytosis Gardos