MUTATION IVS-II-849 (A->C); 
       105         105
CAACAG^CTC->CAACCG^CTC
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM The A->C change in the AG dinucleotide, necessary for normal splicing, abolishes this process, and no normal mRNA is produced
IDENTIFICATION Cloning of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 12.0 g/dl; MCV 68 fl; MCH 21.4 pg; Hb A2 5.1%; Hb F 2.4%
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In a few Black families
HAPLOTYPE [- - + - - + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) In combination with Hb S: Hb 10.2 g/dl; MCV 78.7 fl; MCH 25.2 pg; Hb A2 2.8-5.1%; Hb F 27.1-34.6%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not observed
OTHER INFORMATION None
       
REFERENCES
1. Padanilam, B.J. and Huisman, T.H.J.: Am. J. Hematol., 22:259, 1986.

This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 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 permission in writing from the Author.