MUTATION		Codons 22/23/24 (GAA·GTT·GGT; Glu·Val·Gly); deletion of -AAGTTGG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		A frameshift leading to premature termination of translation at the new codon 58
IDENTIFICATION		Sequencing of amplified DNA; dot-blot analysis with mutation specific oligonucleotide probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not presented
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a 25-year-old Turkish female
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With the frameshift at codon 8 (-AA) leading to a severe, transfusion-dependent, beta-thalassemia major
OTHER INFORMATION		None

REFERENCES
1.		Özçelik, H., Basak, A.N., Tüzmen, S., Kirdar, B., and Akar, N.: Hemoglobin, 17:387, 1993.

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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.