MUTATION		-55 (T->C)
AMINO ACID REPLACEMENT		None
TYPE OF DELTA-THAL		delta+
MECHANISM		This mutation may change the GATA-1 binding motif
IDENTIFICATION		DGGE; amplification of abnormal fragment; sequencing
% HB A2 IN HETEROZYGOTE(S)		Hb A2 quantitated by HPLC (VARIANT[TM] Hb testing system of Bio-Rad); Hb A2 1.6% in two carriers
% HB A2 IN HOMOZYGOTE(S)		None
OCCURRENCE		In Greeks; Cypriots
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		Mutation is linked to the -199 (T->C) change

REFERENCES
1.		Papadakis, M., Papapanagiotou, E., and Loutradi-Anagnostou, A.: Hum. Mutat., 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.