A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).
An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Prato (Tuscany, Italy). Strutctural studies demonstrated a previously unreported amino acid substitution, alpha 31 (B12) Arg leads to Ser (this is an alpha 1 beta 1 contact). The new variant has been named Hb Prato. It was unstable in isopropanol and heat-denaturation tests, but has normal functional properties, with respect to whole blood studies. Family studies indicated that the variant had been inherited from the mother, a 39-year-old woman of Sicilian extraction. Hb Prato occurs at 20 and 28% in hemolysates from the boy and woman, respectively.
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D002675:Child, Preschool; D005260:Female; D006441:Hemoglobin A; D006455:Hemoglobins, Abnormal; D006801:Humans; D008297:Male; D008875:Middle Aged; D010446:Peptide Fragments
D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D006441:Hemoglobin A