MUTATION 1,605 bp deletion (see Fig. 3); the Croatian deletion
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Defective mRNA formation; no normal beta chain is synthesized
IDENTIFICATION Gene mapping; amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 12.7-14.7 g/dl; MCV 69-72 fl; MCH 22 pg; Hb A2 7.6, 8.2%; Hb F 5.8, 8.5%; alpha/non-alpha in vitro ratio 2.1, 1.8
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a family from Croatia
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION The deletion includes the 5' end of IVS-II, exon II, IVS-I, exon 1, and a segment of ~900 bp 5' to the initiation codon
       
REFERENCES
1. Dimovski, A.J., Efremov, D.G., Jankovic, L., Plaseska, D., Juricic, D., and Efremov, G.D.: Br. J. Haematol., 85:143, 1993.


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.