Article
Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene.
Hemoglobin - 1 Mar 2017
Brennan Stephen O, Wang Darrell, Horridge Mark, Sheen Campbell R
Abstract excerpt
Patients with hyperunstable α chain variants usually present with a thalassemic, rather than hemolytic, phenotype. Electrophoretic, ion exchange and reverse phase separations usually fail to detect the variant and when DNA sequencing identifies a 'silent' substitution it is usually presumed to be hyperunstable. We report the identification of such a variant, α32(B13)Met→Ile; HBA1: c.99G>A, arising from a new...
Topics
- Adult
- Female
- Hemoglobins, Abnormal
- Humans
- Mutation
- Protein Stability