Hb Louisville beta42(CD1)Phe->Leu
CONTACT Heme contact
HEMATOLOGY Mild hemolytic anemia with reticulocytosis; Heinz bodies
ELECTROPHORESIS No separations reported
CHROMATOGRAPHY No separations reported
STRUCTURE STUDIES The betaX chain was isolated by pCMB precipitation; tryptic digestion; separation of peptides by cation exchange chromatography; sequencing
DNA ANALYSES Not reported; presumed mutation TTT->CTT at codon 42
FUNCTION STUDIES Decreased oxygen affinity and cooperativity; normal Bohr effect
OCCURRENCE Found in members of a family of English-Irish ancestry living in Kentucky, USA; a Rumanian woman and her daughter; in several members of a Cuban family, and in a Canadian female
1. Keeling, M.M., Ogden, L.L., Wrightstone, R.N., Wilson, J.B., Reynolds, C.A., Kitchens, J.L., and Huisman, T.H.J.: J. Clin. Invest., 50:2395, 1971.
2. Bratu, V., Lorkin, P.A., Lehmann, H., and Predescu, C.: Biochim. Biophys. Acta, 251:1, 1971.
3. Colombo, B., Benitez, M.P., Bernini, L., Elion, J., Wajcman, H., and Labie, D.: J. Med. Genet., 12:297, 1975.
4. Gravely, M.E., Wilson, J.B., Huisman, T.H.J., and Smiley, R.K.: Hemoglobin, 2:89, 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.