Hb Twin Peaks	alpha113(GH1)Leu->His

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X can be detected by IEF; it focuses close to Hb A
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		The alphaX chain separates from alphaA by CM-cellulose chromatography; tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; digestion of the insoluble core with chymotrypsin HPLC chromatography; sequencing
DNA ANALYSES		Not reported; presumed mutation CTC->CAC; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Normal
OCCURRENCE		Found in a family of Mexican-Irish descent
OTHER INFORMATION		Quantity in the heterozygote ~23%

REFERENCES
1.		Guis, M., Mentzer, W.C., Jue, D.L., Johnson, M.H., McGuffey, J.E., and Moo-Penn, W.F.: Hemoglobin, 9:175, 1985.

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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.