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    Biochim Biophys Acta. 1979 Jun 19;578(2):534-40.

    A new abnormal human hemoglobin: Hb Prato (alpha 2 31 (B12) Arg leads to Ser beta 2).

    Marinucci M, Mavilio F, Massa A, Gabbianelli M, Fontanarosa PP, Camagna A, Ignesti C, Tentori L.

    Abstract

    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.

    PMID:
    486536
    [PubMed - indexed for MEDLINE]

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