The 4.1.(-) hereditary elliptocytosis.

Abstract

The 4.1(-) hereditary elliptocytosis is a variety of hereditary elliptocytosis that results from the partial or total absence of skeletal protein 4.1. The heterozygous state, referred to as the 4.l(-) trait, displays to following features: absence of clinical symptoms, dominant transmission, existence of numerous, long and smooth elliptocytes, apparent reduction of band 4.1 by about 30%. The homozygous state yields a pronounced hemolytic anemia and causes some elliptocytes to bud. No band 4.1 is detectable. In addition, sialoglycoproteins β and ϒ are sharply reduced and do no appear in the Triton-shells, indicating an interaction with protein 4.1. 4. 1(-) Hereditary elliptocytosis allows to relate a cellular abnormality to a molecular change. It provides a model for a better understanding of red cell shape and deformability.