Red blood cell abnormalities in hereditary elliptocytosis and their relevance to variable clinical expression.

摘要: Marked variations are seen in the clinical manifestations of hereditary elliptocytosis (HE). To define cellular alteration(s) that best reflect variable expression disease, we evaluated pathobiologic features red blood cells a series 18 patients with HE, 15 persons from six families HE as result defects spectrin, and 3 one family caused by partial or total deficiency protein 4.1. We found decreased deformability is distinguishing feature all studied. Comparison volume hemoglobin content histograms reticulocytes revealed cell fragmentation mature cells. The extent reflected increased percentage microcytic was indicator severity hemolytic anemia. Furthermore, observed properties different consequence varying amounts mutant assembled into membrane. These findings enabled us to mechanistic basis for changes this membrane disorder better also obtain insight expression.