Hb Gouda	alpha72(EF1)His->Gln

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		No separation by standard techniques; Hb X focuses ahead of Hb A in IEF
CHROMATOGRAPHY		Partial separation of Hb X and Hb A by cation exchange HPLC
STRUCTURE STUDIES		Tryptic digestion of alphaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		A CAC->CAA mutation at codon 72 of the alpha2 gene
FUNCTION STUDIES		Not reported
STABILITY		Normal
OCCURRENCE		Found in a 54-year-old Dutch female and her four children
OTHER INFORMATION		Quantity in the heterozygote not listed

REFERENCES
1.		Giordano, P.C., Harteveld, C.L., Kok, P.J.M.J., Geenen, A., Batelaan, D., Amons, R., and Bernini, L.F.: Hemoglobin, 20:21, 1996.

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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.