Abstract
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).
Original language | English (US) |
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Pages (from-to) | 174-178 |
Number of pages | 5 |
Journal | Hemoglobin |
Volume | 44 |
Issue number | 3 |
DOIs | |
State | Published - May 3 2020 |
Keywords
- Hb Bronovo
- microcytic anemia
- thalassemia
- α hemoglobin (Hb) stabilizing protein (AHSP)
- α-Globin
ASJC Scopus subject areas
- Genetics(clinical)
- Biochemistry, medical
- Hematology
- Clinical Biochemistry