Red blood cell membrane disorders

摘要: The recent discovery of the specific molecular defects in many patients with hereditary spherocytosis and elliptocytosis/pyropoikilocytosis partially clarifies pathology these diseases. HE HPP are caused by horizontal interactions that hold membrane skeleton together, particularly critical spectrin self-association reaction. Single gene cause red cells to elongate as they circulate, a unknown mechanism, clinically harmless. combination two defective genes or one severe alpha defect thalassaemia-like opposite allele (alphaLELY) results fragile fragment into bizarre shapes circulation, haemolysis sometimes life-threatening anaemia. A few common, suggesting provide an advantage against malaria some other threat. HS, contrast, is nearly always family-specific private mutations. These involve five proteins link overlying lipid bilayer: beta spectrin, ankyrin, band 3 protein 4.2. Somehow, perhaps through loss anchorage provides its neighbours (Peters et al, 1996), microvesiculation surface ensues, leading spherocytosis, splenic sequestration haemolysis. Future research will need focus on how each type causes associated disease, spleen aggravates (a process termed 'conditioning'), red, recognized removed spleen, why similar even identical can have different clinical severity. Emphasis also needs be given improving diagnostic tests, for exploring new options therapy, like partial splenectomy, which ameliorate symptoms while better protecting from bacterial sepsis cell parasites, atherosclerosis (Robinette & Franmeni, 1977) venous thrombosis (Stewart 1996).