Abstract
All individuals with Hereditary Spherocytosis (H.S) have spectrin deficiency. Recently Coetzer and coll. have described two patients with an apparently dominantly Inherited HS: red cell membranes were deficient in both spectrin and ankyrin. Ankyrin is an extrinsic protein of the red-cell membrane, which links the cytoskeletal network to the membrane by forming a bridge between spectrin and the transmembrane anion channel, band 3. We have studied ankyrin content in 23 normal subjects and in 30 spectrin deficient HS patients. Erythrocyte ghosts were subjected to SDS-PAGE and the amount of ankyrin in the membrane, expressed as a ratio to the amount in band 3, was evaluated by laser-densitometry scansion of the stained gels. Normal subjects showed ankyrin/band3 ratio ranging between 0.183 and 0.265, the mean value being 0.217 ± 0.028. In 28 out of 30 HS patients ankyrln/band3 ratio was found ranging between 0.178 and 0.267, the mean value being 0.213 ± 0.026 : the difference between the two groups isn't statistically significative (p > 0,1). We found instead a marked decrease (to approximately half the control value: ankyrin/band3 0.116 and 0.131 ) in the amounts of ankyrin present in two patients' membrane. Furthermore we observed normal ankyrin and spectrin levels in the parents of both children. Since the other spectrin deficient HS patients are not associated with a concomitant decrease of ankyrin and since ankyrin represents the major binding site of spectrin to the membrane. It is possible that the primary defect in these two patients involves ankyrin and that the deficiency of this protein leads to a defective binding of spectrin to the membrane.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Del Giudice, E., Lolascon, A., Perrotta, S. et al. 60 EVALUATION OF ANKYRIN CONTENT IN HEREDITARY SPHEROCYTOSIS. Pediatr Res 28, 287 (1990). https://doi.org/10.1203/00006450-199009000-00084
Issue Date:
DOI: https://doi.org/10.1203/00006450-199009000-00084