Hb Medicine Lake	beta98(FG5)Val->Met;
	beta32(B14)Leu->Gln

HEMATOLOGY		No data; simple heterozygote not observed
ELECTROPHORESIS		Not possible
CHROMATOGRAPHY		Not possible
STRUCTURE STUDIES		Not possible
DNA ANALYSES		A CTG->CAG mutation at codon 32
FUNCTION STUDIES		Not possible
STABILITY		Extremely unstable
OCCURRENCE		Found in a 19-month-old Caucasian female in combination with Hb Köln (beta98 Val->Met; GTG->ATG); both mutations probably occur on the same chromosome
OTHER INFORMATION		Likely a de novo mutation; the patient had a condition resembling beta-thal major

REFERENCES
1.		Coleman, M.B., Lu, Z-H., Smith, C.M., II, Adams, J.G., III, Harrell, A., Plonczynski, M., and Steinberg, M.H.: J. Clin. Invest., 95:503, 1995.

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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.