Hb Summer Hill beta52(D3)Asp->His
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X in the position of Hb S)
CHROMATOGRAPHY Hb X and Hb A separate in anion and cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC or fingerprinting; amino acid analysis; thermolysin digestion
DNA ANALYSES Not reported; presumed mutation GAT->CAT at codon 52
FUNCTION STUDIES Normal oxygen affinity, Bohr effect, cooperativity, and 2,3-DPG
OCCURRENCE Found in a Lebanese female living in New South Wales, Australia, and in a Turkish family from Northern Cyprus
OTHER INFORMATION Quantity in the heterozygote 32.5-44.5%
1. Wilkinson, T., Brennan, S.O., Carrell, R.W., Wells, R.M., Como, P., and Kronen-berg, H.: Hemoglobin 4:185, 1980.
2. Cin, S., Akar, N., Cavdar, A.O., Arcasoy, A., Dedeoglu, S., Webber, B., Lam, H., and Huisman, T.H.J.: Hemoglobin, 7:467, 1983.

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.