EPIDEMIOLOGIC STUDIES OF SPECTRIN MUTATIONS RELATED TO HEREDITARY ELLIPTOCYTOSIS AND SPECTRIN POLYMORPHISMS IN BENIN

We studied an African population in Benin and discovered an unexpected ly high frequency (1.6%) of hereditary elliptocytosis (HE) among the 1 447 subjects studied. In approximately two-thirds of HE individuals we identified molecular defects, primarily those in erythrocyte alpha-sp ectrin (dupL154, L260P and L207P mutations), as well as a novel mutati on of erythrocyte beta-spectrin (beta-W2061R mutation). We also identi fied the genetic basis of a previously identified protein polymorphism of the alpha III domain of spectrin (R1331I mutation). The genetic ba ckground of HE in the African population was studied using a number of polymorphisms of the alpha-spectrin gene, including the alpha III dom ain polymorphism. These studies suggest that the HE mutations appear t o have originated from separate genetic backgrounds in this population .