Hb Doha beta1(NA1)Val->Glu; amino terminus extended with a
methionyl residue: (-1)Met-(+1)Glu-(+2)His-Leu-
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A in routine electrophoresis at alkaline pH; Hb X moves like Hb F at acidic pH
CHROMATOGRAPHY Hb X and Hb A separate in cation exchange HPLC (Hb X elutes faster) and by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GAG at codon beta1; this prevents the removal of the initiator methionine
OCCURRENCE Found in members of a Qatari family
OTHER INFORMATION Quantity in the heterozygote ~50%
1. Kamel, K., El-Najjar, A., Webber, B.B., Chen, S.S., Wilson, J.B., Kutlar, A., and Huisman, T.H.J.: Biochim. Biophys. Acta, 831:257, 1985.

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.