Article
[Molecular mechanism of hereditary spherocytosis].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego - 1 Jan 2006
Bogusławska Dzamila M, Heger Elzbieta, Sikorski Aleksander F
Abstract excerpt
Hereditary spherocytosis (HS) is a common inherited anaemia in northern Europe characterized by the presence of spherocytic red cells and by heterogeneous clinical presentation, and heterogeneous molecular basis and inheritance. The primary molecular defects reside in the red blood cell membrane, particularly in proteins involved in the vertical interactions between the membrane skeleton and the lipid bilayer....
Topics
- Alleles
- Anion Exchange Protein 1, Erythrocyte
- Ankyrins
- Carrier Proteins
- Cytoskeletal Proteins
- Humans
- Membrane Proteins
- Microfilament Proteins
- Molecular Biology
- Point Mutation
- Spherocytosis, Hereditary