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
OCCURRENCE Found in a Black teenager
OTHER INFORMATION Quantity in the heterozygote ~37%; the parents are normal
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.

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.