Hb Saclay alpha133(H16)Ser->Asn
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation from Hb A except by IEF
CHROMATOGRAPHY Not reported; partial separation of alphaX and alphaA chains by perfusion chromatography on a Poros RI column
STRUCTURE STUDIES Tryptic digestion of AE-alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; electrospray analysis
DNA ANALYSES Not reported; presumed mutation AGC->AAC at codon 133; alpha2 or alpha1
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in an Algerian-Alsatian female
OTHER INFORMATION Abnormal Hb was 20% of total Hb
       
REFERENCES
1. Wajeman, H., Promé, D., Riou, J., Mathis, M., Godart, C., Hurtrel, D., Préhu, C., Bardakkjian, J., Bridey, F., and Galactéros, F.: Abstract 48, Nouv. Rev. Fr. d'Hematol., 38:27, 1996.


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.