overhydrated hereditary stomatocytosis

info · Genetic

A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3.

Signs and symptoms

Stomatocytosis
Increased red cell osmotic fragility
Hemolytic anemia
Reticulocytosis
Jaundice
Increased intracellular sodium
Hepatomegaly
Hyperbilirubinemia
Splenomegaly
Pulmonary embolism

Also known as: OHS; potassium sodium disorder of erythrocyte; stomatocytosisIOHST