APPARENTLY NORMAL ANKYRIN CONTENT IN UNSPLENECTOMIZED HEREDITARY SPHEROCYTOSIS PATIENTS WITH THE INACTIVATION OF ONE ANKYRIN (ANK1) ALLELE

The study of erythrocyte membrane protein concentration by polyacrylam ide gel electrophoresis (PAGE) is the first step in approaching the pr imary molecular defect in hereditary spherocytosis (HS). Normal or gre ater than normal protein 2.1 levels were found in ten unrelated HS pat ients showing the inactivation of one ankyrin allele. Erythrocyte memb ranes from the same patients, once splenectomized, showed a homogeneou s degree of protein 2.1 reduction. Thus protein 2.1 levels could misle adingly appear normal due to the high number of circulating reticulocy tes. To calculate the true ankyrin level using PAGE and consequently t o avoid mistakes in studying a mutated gene, a simple equation, based on the number of reticulocytes, was developed. (C) 1997, Ferrata Stort i Foundation.