Hb Genova beta28(B10)Leu->Pro
CONTACT Internal
HEMATOLOGY Congenital hemolytic anemia associated with Heinz bodies
ELECTROPHORESIS No separation from Hb A
CHROMATOGRAPHY No separation from Hb A; the betaX and betaA chains can be separated by reversed phase HPLC
STRUCTURE STUDIES Isolation of the betaX chain by pCMB; tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CTG->CCG at codon 28
FUNCTION STUDIES Increased oxygen affinity; decreased cooperativity
OCCURRENCE Found in a few families from Europe, East India, Kenya, Cuba, Libya, and Japan
OTHER INFORMATION Quantity in the heterozygote not accurately determined
1. Sansone, G., Carrell, R.W., and Lehmann, H.: Nature, 214:877, 1967.
2. Cohen-Solal, M. and Labie, D.: Biochim. Biophys. Acta, 295:67, 1973.
3. Hopmeier, P., Binder, C., Gadner, H., and Fischer, M.: Acta Haematol., 83:39, 1990.

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.