Hb Pitie-Salpetriere beta34(B16)Val->Phe
CONTACT alpha1beta1 contact
HEMATOLOGY Erythrocytosis in the heterozygote; reticulocytosis
ELECTROPHORESIS No separation of Hb X and Hb A at alkaline pH; in IEF Hb X moves cathodally to Hb A and adjacent to Hb F
STRUCTURE STUDIES Proteolytic digestion; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTC->TTC at codon 34
FUNCTION STUDIES Increased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a French family
OTHER INFORMATION Quantity in the heterozygote 36-38%
1. Blouquit, Y., Braconnier, F., Cohen-Solal, M., Foldi, J., Arous, N., Ankri, A., Binet, J.L., and Rosa, J.: Biochim. Biophys. Acta, 624:473, 1980.

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.