Hb Nottingham	beta98(FG5)Val->Gly

CONTACT		Internal; heme and alpha1beta2 contacts
HEMATOLOGY		Severe hemolytic anemia; reticulocytosis; Heinz bodies
ELECTROPHORESIS		Hb X moves slightly faster then Hb A2 at alkaline pH
CHROMATOGRAPHY		Hb X separates from Hb A by DEAE-cellulose chromatography; the betaX chain separates completely from the other chains by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES		Tryptic digestion of betaX chain; peptides were separated by reversed phase HPLC or fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		A GTG->GGG mutation at codon 98
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity
STABILITY		Unstable
OCCURRENCE		Found in a 2-year-old English female, in a 7-year-old Caucasian male from North Carolina, and in a 7-year-old Canadian male; all three are apparently de novo mutations
OTHER INFORMATION		Quantity in the heterozygote ~26%

REFERENCES
1.		Gordon-Smith, E.C., Dacie, J.V., Blecher, T.E., French, E.A., Wiltshire, B.G., and Lehmann, H.: Proc. Roy. Soc. Med., 6:507, 1973.
2.		Orringer, E.P., Felice, A.E., Reese, A., Wilson, J.B., Lam, H., Gravely, M.E., and Huisman, T.H.J.: Hemoglobin, 2:315, 1978.
3.		Cepreganova, B., Wilson, J.B., Huisman, T.H.J., and Hume, H.A.: Hemoglobin, 16:77, 1992.

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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.