Hb Nouakchott	alpha114(GH2)Pro->Leu

CONTACT		alpha1beta1 contact
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves to the position of Hb F on IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		The alphaA and alphaX chains can be separated on an analytical Aquapore RP300 column (elution with isopropanol); tryptic peptides separated by reversed phase HPLC; amino acid analysis; S. aureus V8 protease digestion of peptide alphaXT-12B; sequencing
DNA ANALYSES		Not reported; presumed mutation CCC->CTC; alpha2 or alpha1
FUNCTIONAL STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found in three families from Northwest Africa
OTHER INFORMATION		Quantity in the heterozygote estimated at ~25%; high hydrophobicity of the alphaX chain

REFERENCES
1.		Wajcman, H., Delaunay, J., Francina, A., Rosa, J., and Galacteros, F.: Biochim. Biophys. Acta, 998:25, 1989.

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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.