The genetic disorders of the red cell skeleton.
Nouv Rev Fr Hematol (1978)
; 33(2): 63-70, 1991.
Article
em En
| MEDLINE
| ID: mdl-1766857
ABSTRACT
The genetic disorders of the red cell skeleton encompass hereditary spherocytosis, hereditary elliptocytosis and an array of ill-defined haemolytic anaemias. Protein chemistry and molecular genetics have illuminated the supramolecular arrangement of the skeleton, the sequence and three-dimensional structure of its protein components, the exon-intron organization of the corresponding genes, the complex splicing undergone by their transcripts. Basically, hereditary spherocytosis is often due to a defect of ankyrin, hereditary elliptocytosis usually results from alterations of spectrin or protein 4.1. Other conditions are related to changes in the anion transporter or protein 4.2. The heterogeneity of the genomic changes, their ultimate consequences at the protein level open windows on fundamental problems concerning alternative splicing of mRNAs and structure-function relationships in proteins.
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Base de dados:
MEDLINE
Assunto principal:
Esferocitose Hereditária
/
Eliptocitose Hereditária
/
Eritrócitos
/
Anemia Hemolítica
Limite:
Humans
Idioma:
En
Ano de publicação:
1991
Tipo de documento:
Article