MUTATION		Codon 45 (-T); TTT(Phe)->-TT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This deletion of T in codon 45 results in a frameshift with a stop codon at codon 60 (TGA) terminating translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.1-13.2 g/dl; MCV 57-61, fl; MCH 18.7-18.9 pg; Hb A2 3.8-4.8%; Hb F 4-9%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a large Pakistani family living in the United Arab Emirates
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With codons 8/9 (+G); thalassemia major with regular transfusion requirement
OTHER INFORMATION		None

REFERENCES
1.		El-Kalla, S. and Mathews, A.R.: 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.