Hb G-Ferrara beta57(E1)Asn->Lys
         
CONTACT External
HEMATOLOGY Data for the heterozygote not reported
ELECTROPHORESIS Not reported
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation AAC->AAA or AAG at codon 57
FUNCTION STUDIES Normal oxygen affinity, alkaline Bohr effect, and cooperativity
STABILITY Mildly unstable
OCCURRENCE Found in one Italian family
OTHER INFORMATION Present in combination with a beta-thal determinant
       
REFERENCES
1. Tentori, L.: Abstract, International Symposium on Abnormal Haemoglobins and Thalassaemias, Istanbul, Turkey, page 68, 1974.
2. Giardina, B., Brunori, M., Antonini, E., and Tentori, L.: Biochim. Biophys. Acta, 534:1, 1978.


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.