MUTATION		619 bp deletion (see Fig. 3)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA formation; no normal beta is synthesized
IDENTIFICATION		Gene mapping; cloning and DNA sequencing; amplification with specific primers; electrophoretic identification of amplification products
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 10.9-14.7 g/dl MCV 60-64 fl; MCH 14-22 pg; Hb A2 5.6, 5.1, 6.1%; Hb F <1.0, 1.6, 1.0%
HEMATOLOGY IN HOMOZYGOTE(S)		A severe blood transfusion-dependent beta-thal major
OCCURRENCE		In Indian and other Asian populations (see Tables XI and XII)
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With various Asian types of beta-thal
OTHER INFORMATION		The deletion includes the 3' part of IVS-II, exon 3, and a segment of DNA 3' to the terminating codon

REFERENCES
1.		Orkin, S.H., Old, J.M., Weatherall, D.J., and Nathan, D.G.: Proc. Natl. Acad. Sci. USA, 76:2400, 1979.
2.		Orkin, S.H., Kolodner, R., Michelson, A., and Husson, R.: Proc. Natl. Acad. Sci. USA, 77:3558, 1980.
3.		Baysal, E., Sharma, S., Wong, S.C., Jogessar, V.B., and Huisman, T.H.J.: Hemoglobin, 18:201, 1994.

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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.