Hb Tilburg	beta73(E17)Asp->Gly

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves slower than Hb A but slightly faster than Hb S
CHROMATOGRAPHY		Hb X was isolated by DEAE-cellulose chromatography
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by fingerprinting; sequencing; mild acid hydrolysis of betaT-9
DNA ANALYSES		Not reported; presumed mutation GAT->GGT at codon 73
FUNCTION STUDIES		Decreased oxygen affinity; normal Bohr effect
STABILITY		Stable
OCCURRENCE		Found in a Dutch family
OTHER INFORMATION		Quantity in the heterozygote 42%

REFERENCES
1.		Bernini, L.F. and Giordano, P.C.: Biochim. Biophys. Acta, 957:281, 1988.

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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.