Hb D-Ouled Rabah beta19(B1)Asn->Lys
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S on paper at alkaline pH
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAC->AAA or AAG at codon 19
FUNCTION STUDIES Not done
STABILITY Not done
OCCURRENCE Found in an Algerian family and in 60 members of a Tuareg tribe of the Southern Sahara
OTHER INFORMATION Quantity in heterozygotes 40-47%
       
REFERENCES
1. Elion, J., Belkhodja, O., Wajcman, H., and Labie, D.: Biochim. Biophys. Acta, 310:360, 1973.
2. Braconnier, F., Beuzard, Y., El Gammal, H., Coquelet, M.T., and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 15:527, 1975.
3. Mauran-Sendrail, A., Lefevre-Witier, Ph., Lehmann, H., and Casey, R.: Br. Med. Genet., 14:245, 1977.


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.