Hb Jacksonville	beta54(D5)Val->Asp

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia with reticulocytosis, mainly during infections; inclusion bodies
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH (Hb X moves between Hb A and Hb J)
CHROMATOGRAPHY		Hb X and Hb A separate by DEAE-Sephadex chromatography; the betaX chain elutes ahead of the betaA chain by reversed phase HPLC
STRUCTURE STUDIES		The AE-betaX chain was digested with trypsin; peptides were separated by fingerprinting; amino acid analysis; sequencing with an automated sequencer
DNA ANALYSES		Not reported; presumed mutation GTT->GAT at codon 54
FUNCTION STUDIES		Increased oxygen affinity; decreased cooperativity; normal Bohr effect
STABILITY		Unstable
OCCURRENCE		Found in a Black teenager
OTHER INFORMATION		Quantity in the heterozygote ~37%; the parents are normal

REFERENCES
1.		Gaudry, C.L., Jr., Pitel, P.A., Jue, D.L., Hine, T.K., Johnson, M.H., and Moo-Penn, W.F.: Hemoglobin, 14:653, 1990.

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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.