A new human hemoglobin variant: Hb BARI (alpha 2 45 (CD3) His leads to Gln beta 2).
An alpha-chain variant hemoglobin was found in the hemolysate of a 21-year-old healthy male living in Bari (Puglia, Italy). Structural studies demonstrated a previously unreported amino acid substitution, alpha 2 45 (CD3) His leads to Gln beta 2, involving a distal heme contact. The new variant has been named Hb Bari. Its electrophoretic behavior was the same as for Hb A; it was stable to both isopropanol and heat denaturation and exhibited normal functional properties, with respect to whole blood and stripped hemolysate studies. The level of Hb Bari was about 20% in the observed carrier. No relative was available for further investigations.
D000433:1-Propanol; D000328:Adult; D000595:Amino Acid Sequence; D004588:Electrophoresis, Cellulose Acetate; D006455:Hemoglobins, Abnormal / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D008297:Male; D011489:Protein Denaturation; D013329:Structure-Activity Relationship
D006455:Hemoglobins, Abnormal; C025259:hemoglobin Bari; D000433:1-Propanol