Hb Terre Haute beta106(G8)Leu->Arg
         
CONTACT Internal; heme contact
HEMATOLOGY Anemia in the heterozygote
IDENTIFICATION Hb X was identified through sequence analysis of the PCR product of DNA isolated from a 10-year-old microscopic slide. Sequence was limited to the third exon; codon 112 was normal (TGT for cysteine) but a T->G mutation was observed at codon 106 (CTG->CGG)
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in two (deceased) persons
OTHER INFORMATION Previously identified as Hb Indianapolis [beta112(G14)Cys-> Arg]; the error was corrected in this abstract. For further details see beta112-Hb Indianapolis
       
REFERENCES
1. Coleman, M.B., Steinberg, M.H., and Adams, J.G., III: Blood, 76:57a (Suppl. 1), 1990.
2. Coleman, M.B., Steinberg, M.H., and Adams, J.G., Ill: J. Biol. Chem., 266:5798, 1991.
3. Girodonm, E., Ghanem, N., Vidaud, M., Riou, J., Martin, J., Galactéros, F., and Goossens, M.: Ann. Hematol., 65:188, 1992.


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.