Hb Hanamaki alpha139(HC1)Lys->Glu
CONTACT External
HEMATOLOGY Normal-to-mild erythrocytosis in the heterozygote
ELECTROPHORESIS A fast-moving band on cellulose acetate at alkaline pH and by IEF; Hb X does not separate from Hb A on agar gel
CHROMATOGRAPHY Hb A and Hb X can be separated by cation exchange chromatography
STRUCTURE STUDIES Tryptic digestion of alphaX chain; reversed phase HPLC to separate the soluble peptides; amino acid analysis; tandem mass spectrometry to confirm the mutation
DNA ANALYSES Not reported; presumed mutation AAA->GAA; alpha2 or alpha1
FUNCTIONAL STUDIES Significantly increased oxygen affinity
OCCURRENCE Found in members of a Japanese family and in a 63-year-old man, his sister, and daughter, all of English-Irish-French-Native American ancestry
OTHER INFORMATION Quantity in the heterozygote about 25%
1. Orisaka, M., Tajima, T., Harano, T., Harano, K., Kushida, Y., and Imai, K.: Hemoglobin, 16:67, 1992.
2. Rahbar, S., Lee, T.D., Davis, M., Novotny, W.F., and Ranney, H.M.: Hemoglobin, 18:221, 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.