MUTATION		Codons 72/73; -AGTGA, +T; AGT·GAT(Ser-Asp)->--- -TT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This deletion of 5 nts and insertion of T gives a frameshift resulting in a premature stop codon at codon 88
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 13.3 g/dl; MCV 74.2 fl; Hb A2 4.1%; Hb F 0.6%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Caucasian female of British descent; relatives not available
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		None

REFERENCES
1.		Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Fernandes, B.J.: Hemoglobin, in press, 1997.

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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.