Hb S beta6(A3)Glu->Val
CONTACT External
HEMATOLOGY Normal in the heterozygote; hemolytic anemia of varying degrees in homozygotes; painful vasoocclusive episodes; leg ulcers; jaundice, stroke, congestive heart failure; meningitis; lowered resistance to salmonella and pneumococcus organisms
ELECTROPHORESIS Hb S and Hb A can readily be separated at both alkaline and acidic pH
CHROMATOGRAPHY Hb S and Hb A separate by both cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing; HPLC
DNA ANALYSES A GAG->GTG mutation at codon 6
STABILITY Normal; in the deoxy form Hb S precipitates, particularly at higher salt concentrations
OCCURRENCE Heterozygotes and homozygotes found in many ethnic groups but predominantly in the Black race and in some Indian tribes
OTHER INFORMATION Hb S is the most studied Hb variant; relevant information can be found in all hematological text books and in many monographs; some are listed below
1. Bunn, H.F. and Forget, B.G.: Hemoglobin: Molecular, Genetic and Clinical Aspects, W.B. Saunders Company, Philadelphia, 1986.
2. Huisman, T.H.J., editor: The Hemoglobinopathies, Methods in Hematology, Vol. 15, Churchill Livingstone, Edinburgh, 1986.
3. Weatherall, D.J. and Higgs, D.R., editors: The Haemoglobinopathies, Bailliere's Clinical Haematology, Vol. 6, W.B. Saunders Company, London, 1993.
4. Embury, S.H., Hebbel, R.P., Mohandas, N., and Steinberg, M.H., editors: Sickle Cell Disease, Basic Principles and Clinical Practice, Raven Press, New York, 1994.
5. Miller, D.R. and Baehner, R.L., editors: Blood Diseases of Infancy and Childhood, 7th edition, Mosby-Year Book, Inc., St. Louis, MO, 1995.

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.