Hb Lufkin beta29(B11)Gly->Asp
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS This fast-moving variant readily separates from Hb A at alkaline pH and by IEF
CHROMATOGRAPHY Partial separation of Hb X and Hb A by cation exchange HPLC; the betaX and betaA chains also separate incompletely by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES A GGC->GAC mutation at codon 29 (Ref. 2)
FUNCTION STUDIES Increased oxygen affinity at acid pH; normal Bohr effect; normal cooperativity at physiological pH
STABILITY Mildly unstable
OCCURRENCE Found in two Black families; in one subject it occurred together with Hb S
OTHER INFORMATION Quantity of Hb X in the subject with Hb S-Hb Lufkin disease was 46%
1. Schmidt, R.M., Bechtel, K.C., Johnson, M.H., Therrell, B.L., Jr., and Moo-Penn, W.F.: Hemoglobin, 1:799, 1977.
2. Gu, L-H., Leonova, J.Ye., and Huisman, T.H.J.: Hemoglobin, 19:291, 1995.

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.