Hb Birmingham	Deletion of Leu-Ala-His-Lys- at beta141,
	beta142, beta143, beta144; insertion of Gln-

HEMATOLOGY		Hemolytic anemia; reticulocytosis; Heinz bodies
ELECTROPHORESIS		Hb X moves about like Hb S in cellulose acetate electrophoresis at alkaline pH
CHROMATOGRAPHY		The betaX chain elutes in two minor zones faster than the betaA chain (reversed phase HPLC)
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Deletion of TG*GCC*CAC*A from codons 141 through 144 removes four amino acid residues (Leu, Ala, His, Lys); the remaining triplet CAG codes for glutamine
FUNCTION STUDIES		Not done
STABILITY		Unstable
OCCURRENCE		Found in an adult Black male
OTHER INFORMATION		Quantity in the heterozygote ~20%

REFERENCES
1.		Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., Codrington, J.F., Prchal, J.T., Hall, K.M., de Pablos, J.Ma., Rodriguez, I., and Huisman, T.H.J.: Blood, 75: 1883, 1990.

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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.