Hb Hakkari	beta31(B13)Leu->Arg

CONTACT		Heme contact; internal residue
HEMATOLOGY		Severe hemolytic anemia in the heterozygote
ELECTROPHORESIS		No abnormal Hb detected
CHROMATOGRAPHY		No abnormal Hb detected; no abnormal beta chain detected by reversed phase HPLC
STRUCTURE STUDIES		Not possible
DNA ANALYSES		A CTG->CGG mutation at codon 31
FUNCTION STUDIES		Not performed
STABILITY		Severely unstable; abnormal Hb is observed as inclusion bodies in erythroblasts
OCCURRENCE		Found in a young Turkish child
OTHER INFORMATION		A de novo mutation

REFERENCES
1.		Gürgey, A., Altay, Ç., Gu, L-H., Leonova, J.Ye., Delibalta, A., Öner, C., and Huisman, T.H.J.: Hemoglobin, 19:165, 1995.

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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.