Hb Montefiore alpha126(H9)Asp->Tyr
         
CONTACT alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X migrates as Hb F at alkaline pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->TAC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity and lack of cooperativity
STABILITY Not reported
OCCURRENCE Found in a Puerto Rican female
OTHER INFORMATION Quantity in the heterozygote ~23%
       
REFERENCES
1. Wajcman, H., Kister, J., Galacteros, F., Josifovska, O., Spielvogel, A., and Nagel, R.L.: Blood, 80:82a (Suppl. 1), 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.