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

Article Details

Citation

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

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

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

PubMed ID
486536 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Hemoglobin subunit alphaP69905Details