Hb I alpha16(A14)Lys->Glu
ALSO KNOWN AS I-Philadelphia; I-Texas; I-Burlington; I-Skamania
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves ahead of Hb A at alkaline pH and with Hb A at acidic pH (citrate agar)
CHROMATOGRAPHY Hb X can be separated from Hb A by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Mutation in the alpha2 gene: AAG->GAG at codon 16
OCCURRENCE Found in Blacks, Indians, and Caucasian families
OTHER INFORMATION Quantity in heterozygotes 24-28%
1. Beale, D. and Lehmann, H.: Nature, 207:259, 1965.
2. Folayan Esan, G.J., Morgan, F.J., O'Donnell, J.V., Ford, S., and Bank, A.: J. Clin. Invest., 49:2218, 1970.
3. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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.