MUTATION		3,485 bp deletion (see Fig. 4); the Thai deletion
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Absence of beta-mRNA
IDENTIFICATION		Amplification with appropriate primers; DNA sequencing; isolation of the PCR product which includes the deletion
HEMATOLOGY IN HETEROZYGOTE(S)		The mother was the carrier: Hb 13.2 g/dl; MCV 69 fl; MCH 21.6 pg; Hb A2 6.7%; Hb F 4.5%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Thai family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband had this deletion and the codon 17 (A->T) nonsense mutation; severe beta-thal major
OTHER INFORMATION		The deletion includes the entire beta-globin gene and segments 5' and 3' to this gene

REFERENCES
1.		Sanguansermsri, T., Pape, M., Laig, M., Hundrieser, J., and Flatz, G.: Hemoglobin, 14:157, 1990.
2.		Lynch, J.R., Brown, J.M., Best, S., Jennings, M.W., and Weatherall, D.J.: Genomics, 10:509, 1991.

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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.