Article
Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.
Hemoglobin - 1 Jun 2016
Pianezze Graziano, Toniolo Manuele, Taddei Masieri Marina, Dolcini Bernardetta, Ravani Anna
Abstract excerpt
A previously unreported β chain variant, Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)], was incidentally discovered in a woman suffering from diabetes, during glycated hemoglobin (Hb A1c) assay. Its presence was suspected because of a small abnormal peak with a retention time just shorter than that of normal Hb A1c. Standard high performance liquid chromatography (HPLC), capillary zone...
Topics
- Adult
- Chromatography, High Pressure Liquid
- Diabetes Mellitus
- Female
- Glycated Hemoglobin
- Hemoglobins, Abnormal
- Humans
- Mutation
- Pedigree
- Sequence Analysis, DNA
- Silent Mutation
- beta-Globins