Hb Savannah beta24(B6)Gly->Val
CONTACT Internal; close contact with the E helix
HEMATOLOGY Hemolytic anemia with reticulocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A do not separate well at alkaline pH; some of the variant Hb moves to the position of Hb S
CHROMATOGRAPHY No good separation reported by either cation or anion exchange chromatography
STRUCTURE STUDIES pCMB precipitation; tryptic digestion; cation exchange chromatography; thermolysin digestion; sequencing
DNA ANALYSES Not reported; presumed mutation GGT->GTT at codon 24
STABILITY Unstable; increased dissociation into dimers and monomers
OCCURRENCE Found in an 8-year-old Caucasian child but not in her parents or her seven siblings
OTHER INFORMATION Quantity in the heterozygote estimated at ~30%; splenectomy at 19 months of age
1. Huisman, T.H.J., Brown, A.K., Efremov, G.D., Wilson, J.B., Reynolds, C.A., Uy, R., and Smith, L.L.: J. Clin. Invest., 50:650, 1971.

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.