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
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%
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.

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.