Hb Brockton beta138(H16)Ala->Pro
         
CONTACT Internal; central cavity
HEMATOLOGY Moderate hemolytic anemia with reticulocytosis
ELECTROPHORESIS No separation observed
CHROMATOGRAPHY No separation observed; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCT->CCT at codon 138
FUNCTION STUDIES Appears normal
STABILITY Unstable
OCCURRENCE Found in a Caucasian female and in a 12-year-old Turkish girl; parents are not affected
OTHER INFORMATION About 20-25% of the Hb in hemolysate is heat labile
       
REFERENCES
1. Moo-Penn, W.F., Jue, D.L., Johnson, M.H., Bechtel, K.C., and Patchen, L.C.: Hemoglobin, 4:347, 1980.
2. Ulukutlu, L., Ozsahin, H., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:509, 1989.


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.