Hb Prato alpha31(B12)Arg->Ser
         
CONTACT alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A at alkaline pH but does not separate at acidic pH
CHROMATOGRAPHY Hb X separates from Hb A by DE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting on paper or reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AGG->AGC; alpha2 or alpha1
FUNCTIONAL STUDIES Normal oxygen affinity, Bohr effect, and cooperativity
STABILITY Mildly unstable
OCCURRENCE Found in two Italian families
OTHER INFORMATION Quantity in heterozygotes 20-30%
       
REFERENCES
1. Marinucci, M., Mavilio, F., Massa, A., Gabbianelli, M., Fontanarosa, P.P., Camagna, A., Ignesti, C., and Tentori, L.: Biochim. Biophys. Acta, 578:534, 1979.
2. De Marco, E.V., Crescibene, L., Pascua, A., Brancati, C., Bria, M., and Qualtieri, A.: Hemoglobin, 16:275, 1992.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.