dehydrated hereditary stomatocytosis 1

info · Genetic

A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.

Signs and symptoms

Exercise-induced hemolysis
Increased mean corpuscular hemoglobin concentration
Increased red cell hemolysis by shear stress
Reticulocytosis
Pallor
Hemoglobinuria
Hepatomegaly
Cholelithiasis
Increased circulating ferritin concentration
Hepatitis

Also known as: PSHK1; dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; pseudohyperkalemia edinburgh; pseudohyperkalemia familial 1, due to red cell leak