Hb Duino	beta92((F8)His->Pro;
	beta104(G6)Arg->Ser

HEMATOLOGY		Hemolytic anemia in the heterozygote
ELECTROPHORESIS		Hb X moves slowly at alkaline pH
CHROMATOGRAPHY		Not reported
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
FUNCTION STUDIES		Not reported
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

REFERENCES
1.		Wajcman, H., Blouquit, Y., Vasseur, C., Le Querrec, A., Laniece, M., Melevendi, C., Rasore, A., and Galacteros, F.: Hum. Genet., 89:676, 1992.

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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.