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.


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.