Article
Molecular heterogeneity of hereditary elliptocytosis in Italy.
Haematologica - 1 Jan 2000
Miraglia del Giudice E, Perrotta S, Sannino E, De Angelis F, Nobili B, Iolascon A
Abstract excerpt
BACKGROUND: Common HE is the most prevalent clinical form of hereditary elliptocytosis; its clinical findings vary considerably, ranging from an asymptomatic carrier state to a severe, even life-threatening hemolytic disorder. Structural modification and reduction of 4.1 protein, or abnormalities at the spectrin self-association site could lead to elliptocytes. METHODS: Sixty-one Italian HE patients belonging to...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Elliptocytosis, Hereditary
- Erythrocyte Membrane
- Humans
- Infant
- Italy
- Membrane Proteins
- Middle Aged
- Phenotype
