Hb Sun Prairie	alpha130(H13)Ala->Pro

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia in the proband
ELECTROPHORESIS		No Hb X was detectable by alkaline electrophoresis and IEF
CHROMATOGRAPHY		Anion and cation exchange failed to detect an abnormal Hb
STRUCTURE STUDIES		The globin chains were separated by reversed phase HPLC; tryptic digestion; reversed phase HPLC; amino acid analysis
DNA ANALYSES		A GCT->CCT mutation was observed at codon 130 of the alpha2 gene
FUNCTIONAL STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found in a 4-year-old (adopted) Indian boy (homozygote), and in a 20-year-old Indian male (heterozygote)
OTHER INFORMATION		Quantity in the heterozygote and the homozygote ~10-11%

REFERENCES
1.		Harkness, M., Harkness, D.R., Kutlar, F., Kutlar, A., Wilson, J.B., Webber, B.B., Codrington, J.F., and Huisman, T.H.J.: Hemoglobin, 14:479, 1990.
2.		Plaseska, D., Gu, L-H., Wilson, J.B., Codrington, J.F., Huisman, T.H.J., and Dash, S.: Hemoglobin, 14:491, 1990.

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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.