Hb Paksé alpha142, Term->Tyr (TAA->TAT at alpha2);
C-terminal sequence was not determined because the Hb
could not be isolated; it appears likely that it will be
the same as Hb CS except that residue 142 is TYR
         
HEMATOLOGY Probably normal in the heterozygote
ELECTROPHORESIS Not observed
CHROMATOGRAPHY Not observed
STRUCTURE STUDIES Not done
DNA ANALYSES A TAA->TAT mutation at codon alpha142 (alpha2); the Hb Paksé abnormality can best be detected by sequencing of the alpha2 gene or by dot-blot analysis with specific probes
FUNCTION STUDIES Not done
STABILITY Not done
OCCURRENCE Found in a Laotian family
OTHER INFORMATION Observed in associated with alpha-thal-2
       
REFERENCES
1. Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Olivieri, N.F.: Blood, 83: 3418, 1994.
2. Smetanina, N.S., Leonova, J.Y., Levy, N., and Huisman, T.H.J.: Acta Haematol., 94:144, 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.