Hb Hammersmith beta42(CD1)Phe->Ser
CONTACT Heme contact
HEMATOLOGY Severe Heinz body hemolytic anemia
ELECTROPHORESIS No clear separations obtained in any medium
CHROMATOGRAPHY No separation by cation or anion exchange HPLC; excellent separation of betaX and betaA chains by reversed phase HPLC; betaX elutes ahead of betaA
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; chymotryptic digestion; sequencing
DNA ANALYSES A TTT->TCT mutation at codon 42 (Ref. 3)
FUNCTION STUDIES Decreased oxygen affinity and cooperativity
OCCURRENCE Found in a few English children, a Japanese male, and in an North American Indian
OTHER INFORMATION Routine blood transfusions required; splenectomy helpful; quantity in the heterozygote (before transfusion) ~23%
1. Dacie, J.V., Shinton, N.K., Gaffney, P.J., Jr., Carrell, R.W., and Lehmann, H.: Nature, 216:663, 1967.
2. May, A. and Huehns, E.R.: Br. J. Haematol., 30:185, 1975.
3. Cunningham, T.A., Baker, F., Kobrinsky, N.L., Cepreganova, B., Baysal, E., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 16:19, 1992.

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.