[Clinical and biochemical study of 9 patients with hereditary elliptocytosis]. / Estudio clínico y bioquímico de 9 pacientes con eliptocitosis hereditaria.

ABSTRACT

Using clinical, functional and biochemical criteria, we studied the red blood cell membrane of nine caucasic patients from four families with hereditary elliptocytosis (HE). From a clinical point of view, seven cases were classified as compensated mild HE in whom anemia and splenomegaly are absent and reticulocytosis is slightly elevated or normal. Two cases were uncompensated mild HE with anemia, reticulocytosis, splenomegaly and erythrocytic fragmentation. (Table 1). Three individuals from one family displayed a significant reduction of protein 4.1 by polyacrylamide gel electrophoresis; one of them was uncompensated HE. The patterns of limited tryptic digestion and dimer/tetramer proportion of spectrin were normal. The study of red cell deformability by ectacytometry revealed that the cell deformability under isotonic conditions was decreased in all HE patients and the curve obtained had trapezoidal shape (Fig. 3). We found that the deformability index correlated well with the degree of anemia, but no correlation was observed between clinical findings, morphological phenotype and specific molecular etiology. According to our knowledge, this is the first report on molecular and functional studies in HE in Argentina.