MUTATION -30 (T->A) 
 -30  -25 
  |    |  
CATAAAAG->
CAAAAAAG
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+
MECHANISM Decreased efficiency of transcription of the beta-globin gene because of reduced binding of transcription factors
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S) n=4: Hb 11.65±1.75 g/dl; MCV 79.5±9.8 fl; MCH 22.6± 0.4 pg; Hb A2 4.95±0.65%; Hb F 2.0±1.4%
HEMATOLOGY IN HOMOZYGOTE(S) Hb 10.0 g/dl; MCV 82 fl; MCH 24.4 pg; Hb A2 4.2%; Hb F 13.1%; thalassemia intermedia; no transfusion requirements
OCCURRENCE In a few Turkish, Macedonian, and Tunisian patients
HAPLOTYPE VII [+ - - - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S) With Hb Lepore; Hb 9.2 g/dl; MCV 75 fl; MCH 24 pg; Hb A2 2.4%; Hb F 80%; Hb A 7.8%; Hb Lepore 9.8%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None reported
OTHER INFORMATION None
       
REFERENCES
1. Fei, Y.J., Stoming, T.A., Efremov, G.D., Efremov, D.G., Battacharia, R., Gonzalez-Redondo, J.M., Altay, Ç., Gurgey, A., and Huisman, T.H.J.: Biochem. Biophys. Res. Commun., 153:741, 1988.
2. Fattoum, S., Guemira, F., Öner, C., Öner, R., Li, H-W., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 15:11, 1991.

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.