Article
A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val].
Biochimica et biophysica acta - 1 Mar 2010
Manconi Barbara, De Rosa Maria Cristina, Cappabianca Maria Pia, Olianas Alessandra, Carelli Alinovi Cristiana, Mastropietro Fabrizio, Ponzini Donatella, Amato Antonio, Pellegrini Mariagiuseppina
Abstract excerpt
BACKGROUND: Haemoglobin Roma [beta115(G17)Ala-->Val] is a new adult haemoglobin variant found in a patient presenting a mild hypochromia and microcytosis. We studied this previously uncharacterised variant in order to evaluate the effect on the structural and funcional properties of the Ala-->Val substitution at the alpha1beta1 interface. METHODS AND RESULTS: The variant chain was identified by direct DNA...
Topics
- Adult
- Alanine
- Amino Acid Substitution
- Carrier State
- Female
- Genetic Variation
- Hemoglobins, Abnormal
- Humans
- Models, Molecular
- Oxyhemoglobins