MUTATION Codon 6 (-A); GAG(Glu)->G-G
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM This frameshift results in the termination of translation at codon 18 (TGA)
IDENTIFICATION Cloning of the beta-globin gene; partial sequencing of the cloned DNA; ASO; dot-blot analysis; gene mapping with Bsu36I, DdeI, MstII
HEMATOLOGY IN HETEROZYGOTE(S) (n=4): Hb 11.1±0.8 g/dl; MCV 67.8±4.7 fl; MCH 22.6± 1.5 pg; Hb A2 4.5±0.9%; Hb F 2.1±1.2% (from Ref. 3)
HEMATOLOGY IN HOMOZYGOTE(S) None known
OCCURRENCE In Italian beta-thal patients, in American Blacks; see also Tables III, IV, V, and VI
HAPLOTYPE I; V; IX
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION Can also be detected with the enzyme MstII; the normal betaA gene is cut (1.1 kb; 0.2 kb fragments), that of betaS and of betaTh (codon 6, -A) is not (1.3 kb fragment)
       
REFERENCES
1. Kazazian, H.H., Jr., Orkin, S.H., Boehm, C.D., Sexton, J.P., and Antonarakis, S.E.: Am. J. Hum. Genet., 35:1028, 1983.
2. Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988.
3. Petkov, G.H., Efremov, G.D., Efremov, D.G., Dimovski, A., Tchaicarova, P., Tchaicarov, R., Rogina, B., Agarwal, S., Kutlar, A., Kutlar, F., Reese, A.L., Stoming, T.A., and Huisman, T.H.J.: Hemoglobin, 14:25, 1990.


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.