Hb Duino beta92((F8)His->Pro;
HEMATOLOGY Hemolytic anemia in the heterozygote
ELECTROPHORESIS Hb X moves slowly at alkaline pH
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CAC->CCC and AGG->AGC or AGT at codons 92 and 104
STABILITY Hb X loses its heme group; heme is only attached to the alpha chain
OCCURRENCE Found in an Italian patient
OTHER INFORMATION The proband's father was heterozygous for Hb Camper-down (beta104 Arg->Ser) as were three of his brothers; the additional mutation, beta92 His->Pro, also found in Hb Newcastle, must have occurred in the beta-Camperdown gene of the father during spermatogenesis
1. Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., and Galacteros, F.: Hum. Genet., 89:676, 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.