An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Prato (Tuscany, Italy). Structural studies demonstrated a previously unreported amino acid substitution, α31 (B12) Arg → Ser (this is an α 1β1 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. © 1979.
A new abnormal human hemoglobin: Hb prato (α231 (B12) Arg→Ser β2) / Marinucci, M.; Mavilio, F.; Massa, A.; Gabbianelli, M.; Fontanarosa, P. P.; Camagna, A.; Ignesti, C.; Tentori, L.. - In: BIOCHIMICA ET BIOPHYSICA ACTA. PROTEIN STRUCTURE. - ISSN 0005-2795. - 578:2(1979), pp. 534-540. [10.1016/0005-2795(79)90184-3]
A new abnormal human hemoglobin: Hb prato (α231 (B12) Arg→Ser β2)
Mavilio F.;
1979
Abstract
An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Prato (Tuscany, Italy). Structural studies demonstrated a previously unreported amino acid substitution, α31 (B12) Arg → Ser (this is an α 1β1 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. © 1979.
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