Hb Shelby beta131(H9)Gln->Lys
NOTE: This variant was previously identified as having the glutamine residue at beta131 deleted and was named Hb Leslie or Hb Deaconess; correction was made in Refs. 4 and 5
CONTACT Internal; alpha1beta1 contact
HEMATOLOGY Nearly normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X migrates in the Hb F position on cellulose acetate; at acidic pH Hb X moves between Hb S and Hb C
CHROMATOGRAPHY Hb X and Hb A readily separate in cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and cation exchange HPLC; amino acid analysis; sequencing
DNA ANALYSES A CAG->AAG mutation at codon 131 (Ref. 6)
STABILITY Mildly unstable
OCCURRENCE Found mainly in a few Black families
OTHER INFORMATION Quantity in the heterozygote ~35%; has been found in combination with Hb S, Hb C, alpha-, and beta-thal
1. Lutcher, C.L., Wilson, J.B., Gravely, M.E., Stevens, P.D., Chen, C.J., Lindeman, J.G., Wong, S.C., Miller, A., Gottleib, M., and Huisman, T.H.J.: Blood, 47:99, 1976.
2. Felice, A., Abraham, E.C., Miller, A., Stallings, M., and Huisman, T.H.J.: Am. J. Hematol., 5:1, 1978.
3. Carcassi, U.E.F., Pintus, A., Gravely, M.E., and Huisman, T.H.J.: Hemoglobin, 4:195, 1980.
4. Moo-Penn, W.F., Johnson, M.H., McGuffey, J.E., and Jue, D.L.: Hemoglobin, 8:583, 1984.
5. Wilson, J.B., Webber, B.B., and Huisman, T.H.J.: Hemoglobin, 8:595, 1984.
6. Cürük, M.A., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 16:417, 1992.
7. Adachi, K., Surrey, S., Tamary, H., Kim, J., Eck, H.S., Rappaport, E., and Ohene-Frempong, K.: Hemoglobin, 17:329, 1993.

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.