Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.
Nikita MehtaJ Martin JohnstonMolly HeinBenjamin R KippLea CoonMichelle E SavedraJames D HoyerRong HeAruna RanganMin ShiJennifer L OliveiraPublished in: Hemoglobin (2020)
Hb Bronovo [α103(G10)His→Leu, HBA2: c.311A>T] is an α-globin variant that interferes with and decreases binding efficiency to α hemoglobin (Hb) stabilizing protein (AHSP), a chaperone molecule. The histidine residue at position 103 is integral to the AHSP hydrogen bond formation where disruption results in an increased quantity of cytotoxic free α-globin chains, thereby creating a similar pathophysiology as β-thalassemia (β-thal). We report a family with Hb Bronovo, including a homozygous proband, which resulted from maternal uniparental disomy (UPD). Although not detected by routine studies in previous reports, the variant protein is visible by intact mass spectrometry (MS).
Keyphrases
- mass spectrometry
- amino acid
- binding protein
- liquid chromatography
- protein protein
- multiple sclerosis
- clinical practice
- high performance liquid chromatography
- oxidative stress
- capillary electrophoresis
- pregnant women
- body mass index
- physical activity
- sickle cell disease
- pregnancy outcomes
- dna binding
- anti inflammatory
- electronic health record