The 4.1.(-) hereditary elliptocytosis.

• Autor(a) principal: Delaunay, J.
• Data de Publicação: 1985
• Outros Autores: Alloisio, N., Morle, L.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3697

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.