Hb Necker Enfants-Malades	alpha20(B1)His->Tyr

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves with Hb A on cellulose acetate and citrate agar; separation is best by IEF (pI 6.84; Hb A pI 6.95)
CHROMATOGRAPHY		The variant was isolated on a Bio-Rex 70 column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CAC->TAC; alpha2 or alpha1
FUNCTIONAL STUDIES		Normal
STABILITY		Not reported
OCCURRENCE		Found in a family from the French West Indies (Guadeloupe)
OTHER INFORMATION		Quantity in the heterozygote 30%

REFERENCES
1.		Wajcman, H., Elion, J., Boissel, J.P., Labie, D., Jos, J., and Girot, R.: Hemoglobin, 4:177, 1980.

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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.