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

Source: PubMed, NCBI / U.S. National Library of Medicine

Hereditary stomatocytosis comprises a group of disorders of the erythrocyte membrane that lead to impaired membrane permeability for Naand Kions. 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.