MUTATION		~45 kb deletion (see Fig. 4); the Filipino deletion
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		No beta chain formation; modest increase in gamma chain synthesis
IDENTIFICATION		Gene mapping; sequencing of a specifically amplified region of genomic DNA
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.5-10.3 g/dl; MCV 80-87 fl; MCH 20-21 pg; Hb A2 7.3, 7.1%; Hb F 3.8, 9.1%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few Filipino and Indonesian-Malay families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The 5' breakpoint of the deletion is at position -4,279 nts 5' from the Cap site; the 3' breakpoint is ill-defined

REFERENCES
1.		Motum, P.I., Kearney, A., Hamilton, T.J., and Trent, R.J.: J. Med. Genet., 30:340, 1993.
2.		Dimovski, A.J., Baysal, E., Efremov, D.G., Prior, J.F., Raven, J.L., Efremov, G.D., and Huisman, T.H.J.: Hemoglobin, 20:377, 1996.

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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.