Article
Hb Waikato [α127(H10)Lys→Gln; HBA1: c.382A>C]: A Novel High Oxygen Affinity Variant.
Hemoglobin - 1 Jan 2021
Moore Jordyn A, Pullon Beverley M, Wang Darrell, Brennan Stephen O
Abstract excerpt
We report the identification of a novel, high oxygen affinity hemoglobin (Hb) variant [α127(H10)Lys→Gln; HBA1: c.382A>C]. The variant was detected in an adolescent male (proband) of Syrian descent by cation exchange high performance liquid chromatography (HPLC), during Hb A1c analysis. A complete blood count (CBC) showed elevated red blood cells (RBCs) (6.08 × 1012/L), Hb (16.1 g/dL) and packed cell volume (PCV)...
Topics
- Adolescent
- Chromatography, High Pressure Liquid
- Glycated Hemoglobin
- Hemoglobins, Abnormal
- Humans
- Male
- Mutation
- Oxygen
