Article
A new high affinity variant Hb Aurillac (β141Leu→Val).
Hemoglobin - 1 Jan 2013
Boursier Guilaine, Trouillier Sébastien, Blaizot Muriel Giansily, Igual Hélène, Schved Jean-François, Martinez Patricia Aguilar
Abstract excerpt
Hemoglobin (Hb) variant β141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi [the other one being β144(HC1)Lys-Tyr-His→0 (HBB:c.433A>T)], was found as an isolated mutation. In contrast to what was suggested for Hb Kochi, the new variant was not clinically silent. It displayed increased oxygen affinity and was associated with mild erythrocytosis.
Topics
- Adult
- Amino Acid Substitution
- Codon
- DNA Mutational Analysis
- Erythrocyte Indices
- Exons
- Hemoglobins, Abnormal
- Humans
- Male
- Mutation
- Oxygen
- Protein Binding
- beta-Globins