Hb Dhofar beta58(E2)Pro->Arg
CONTACT External
HEMATOLOGY Mildly anemic with microcytosis and hypochromia; reticulocytosis (see below)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X occupies the position of Hb S) but not at acidic pH
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES A CCT->CGT mutation at codon 58 (Ref. 3)
STABILITY Not reported
OCCURRENCE Found in Qara tribesmen living in Southern Arabia
OTHER INFORMATION Quantity in the heterozygote is a low 15%; a beta+-thalassemic mutation [codon 29 (C->T) or IVS-I, -3 (C->T)] is present on the same chromosome; this thalassemia splicing mutation is responsible for the low level of Hb Dhofar
1. Marengo-Rowe, A.J., Lorkin, P.A., Gallo, E., and Lehmann, H.: Biochim. Biophys. Acta, 168:58, 1968.
2. Yanase, T., Hanada, M., Seita, M., Ohya, I., Ohta, Y., Imamura, T., Fujimura, T., Kawasaki, K., and Yamaoka, K.: Jpn. J. Hum. Genet., 13:40, 1968.
3. Williamson, D., Brown, K.P., Langdown, J.V., and Baglin, T.P.: Br. J. Haematol., 90:229, 1995.

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.