Hb Monroe beta30(B12)Arg->Thr
         
ALSO KNOWN AS Kairouan
CONTACT alpha1beta1 contact
HEMATOLOGY Mild anemia with microcytosis and hypochromia in the heterozygote
ELECTROPHORESIS Hb X has not been found except in a minor Hb zone isolated by CM-cellulose chromatography
CHROMATOGRAPHY None reported
STRUCTURE STUDIES Not reported
DNA ANALYSES An AGG->ACG mutation at codon 30; codon 30 (AGG) is divided by intron 1 as follows: ---CTT*AG<-IVS-I->G*CTG*CTG---. It is the last nt G of exon 1 that is changed to C
FUNCTION STUDIES Not reported
STABILITY Most unstable
OCCURRENCE Found in a Black family and a North African woman born to a Libyan father and a Tunisian mother
OTHER INFORMATION Found in a Black girl in combination with the promoter mutation A->G at position -29; this patient was transfusion dependent
       
REFERENCES
1. Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, F., Kutlar, A., Hu, H., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 13:67, 1989.
2. Vidaud, M., Gattoni, R., Stevenin, J., Vidaud, D., Amselem, S., Chibani, J., Rosa, J., and Goossens, M.: Proc. Natl. Acad. Sci. USA, 86:1041, 1989.


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.