[Hereditary dehydrated stomatocytosis (= hereditary xerocytosis) - Interesting hummingbird or clinically relevant diagnosis?].

Hereditary stomatocytosis comprises a group of disorders of the erythrocyte membrane that lead to impaired membrane permeability for Na+ and K+ ions. The most common form, dehydrated stomatocytosis, has long been underestimated in terms of its incidence and significance. It is associated with hemolysis, usually anemia of varying severity, and a combination of primary and secondary resorptive hemochromatosis. In the perinatal period, some patients develop edema and effusions of varying severity, which usually regress spontaneously but can progress to life-threatening hydrops fetalis. Splenectomy is not only ineffective in this disease but also contraindicated due to the associated risk of thrombosis.