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.

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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.