Hb Pierre-Bénite beta90(F6)Glu->Asp
CONTACT External
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.56 l/l)
ELECTROPHORESIS No separations with standard techniques; IEF showed a double Hb A band
STRUCTURE STUDIES Tryptic digestion of AE-beta chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAG->GAC or GAT at codon 90
FUNCTION STUDIES Increased oxygen affinity
OCCURRENCE Found in members of a Caucasian family from Northern France
OTHER INFORMATION Quantity in the heterozygote 40-47% (densitometry)
1. Baklouti, F., Giraud, Y., Francina, A., Richard, G., Favre-Gilly, J., and Delaunay, J.: Hemoglobin, 12:171, 1988.

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.