Hb Kurdistan alpha47(CE5)Asp->Tyr
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH
CHROMATOGRAPHY Hb X was isolated by anion exchange chromatography
STRUCTURE STUDIES Tryptic peptides of the alpha chain were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Mutation in the alpha2 gene: GAC->TAC at codon 47
OCCURRENCE Found in three members of a Kurdish family
OTHER INFORMATION Quantity in heterozygotes 17-18%; quantity of Hb X in one member who was also heterozygous for betao-thal was a low 4.2%, indicating a decreased affinity of alphaX for beta
1. Giordano, P.C., Harteveld, C.L., Streng, H., Oosterwijk, J.C., Heister, J.G.A.M., Amons, R., and Bernini, L.F.: Hemoglobin, 18:11, 1994.

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.