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
STABILITY		Normal
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%

REFERENCES
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.