MUTATION 44 bp deletion (see Fig. 3)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Defective mRNA; no normal beta chain synthesized
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Not reported
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a Greek and a Macedonian family
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) The proband was a compound heterozygote for this deletion and the IVS-I-110 (G->A) mutation; severe transfusion-dependent beta-thal major (Ref. 1)
OTHER INFORMATION None
       
REFERENCES
1. Gonzalez-Redondo, J.M., Kattamis, C., and Huisman, T.H.J.: Hemoglobin, 13:377, 1989.
2. Efremov, G.D.: Personal communication, 1997.


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.