Indianapolis.html

Hb Indianapolis	beta112(G14)Cys->Arg


CONTACT		Internal; central cavity; alpha1beta1 contact
HEMATOLOGY		Normal in the heterozygote; reticulocytosis
ELECTROPHORESIS		Hb X moves slower than Hb A in IEF
CHROMATOGRAPHY		Not reported; the beta^X, beta^A, and alpha chains can be separated on a CM-cellulose column (the Clegg procedure)
STRUCTURE STUDIES		Tryptic digestion of AE-beta^X chain; separation of peptides by reversed phase HPLC or fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation TGT->CGT at codon 112
FUNCTION STUDIES		Not determined
STABILITY		Unstable
OCCURRENCE		In several members of a Spanish family
OTHER INFORMATION		1) Quantity in the heterozygote was determined by scanning of the strip revealing the separation of the beta^X, beta^A, and alpha chains; it was found to be 38-40% beta^X and 60-62% beta^A. 2) The beta112 Cys->Arg replacement was originally assigned to an abnormal Hb in two members of an European family. Both persons had severe hemolytic anemia with reticulocytosis and were splenectomized. The Hb variant was found to be extremely unstable and its identity could only be studied by biosynthetic analysis in which a radio-active abnormal peak was observed. Unfortunately, the identification of this fraction was incorrect; instead of a Cys->Arg replacement at beta112 as originally observed, a beta106 Leu->Arg change was found in subsequent DNA analysis. The variant was renamed Hb Terre Haute (Ref. 4).


REFERENCES
1.		Adams, J.G., III, Boxer, L.A., Baehner, R.L., Forget, B.G., Tsistrakis, G.A., and Stein-berg, M.H.: J. Clin. Invest., 63:931, 1979.
2.		Adams, J.G., Steinberg, M.H., Boxer, L.A., Baehner, R.L., Forget, B.G., Tsistrakis, G.A.: J. Biol. Chem., 254:3479, 1979.
3.		Baiget, M., Gomez Pereira, C., Jue, D.l., Johnson, M.h., McGuffey, J.E., and Moo-Penn, W.F.: Hemoglobin, 10:483, 1986
4.		Coleman, M.B., Steinberg, M.H., and Adams, J.G., III: Blood, 76:57a (Suppl. 1), 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.