Hb Attleboro alpha138(H21)Ser->Pro
         
CONTACT Internal
HEMATOLOGY Mild anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate by cellulose acetate (pH 8.3); Hb X appears as a band between Hb A and Hb S
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of alphaX chain; chymotryptic digestion of the insoluble core; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TCC->CCC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity
STABILITY Normal
OCCURRENCE Found in a 5-year-old girl and her father
OTHER INFORMATION Quantity of Hb X approximately 11%
       
REFERENCES
1. McDonald, M.J., Michalski, L.A., Turci, S.M., Guillette, R.A., Jue, D.L., Johnson, M.H., and Moo-Penn, W.F.: Biochemistry, 29:173, 1990.


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.