MUTATION 1,393 bp deletion (see Fig. 3)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Defective mRNA; no normal beta chain is produced
IDENTIFICATION Gene mapping; cloning and DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 12-14 g/dl; MCV 68-70 fl; MCH 16-22 pg; Hb A2 7.2, 8.4, 8.0, 8.2, 8.2, 7.8%; Hb F 7.1, 3.5, 1.8, 4.0, 1.9, 6.5%
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE Found in a few Black families
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) With Hb S (Refs. 1, 4)
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION The deletion includes the 5' half of IVS-II, exon II, IVS-I, exon 1, and a segment of ~500 bp 5' to the initiation codon
       
REFERENCES
1. Padanilam, B.J., Felice, A.E., and Huisman, T.H.J.: Blood, 64:941, 1984.
2. Thein, S.L., Hesketh, C., Brown, J.M., Anstey, A.V., and Weatherall, D.J.: Blood, 73:924, 1989.
3. Anand, R., Boehm, C.D., Kazazian, H.H., Jr., and Vanin, E.F.: Blood, 72:636, 1988.
4. Waye, J.S., Chui, D.H.K., Eng, B., Cai, S-P., Coleman, M.B., Adams, J.G., III, and Steinberg, M.H.: Am. J. Hematol., 38:108, 1991.
5. Gonzalez-Redondo, J.M., Kattamis, C., and Huisman, T.H.J.: Hemoglobin, 13:377, 1989.


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.