MUTATION		1,605 bp deletion (see Fig. 3); the Croatian deletion
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA formation; no normal beta chain is synthesized
IDENTIFICATION		Gene mapping; amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.7-14.7 g/dl; MCV 69-72 fl; MCH 22 pg; Hb A2 7.6, 8.2%; Hb F 5.8, 8.5%; alpha/non-alpha in vitro ratio 2.1, 1.8
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a family from Croatia
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The deletion includes the 5' end of IVS-II, exon II, IVS-I, exon 1, and a segment of ~900 bp 5' to the initiation codon

REFERENCES
1.		Dimovski, A.J., Efremov, D.G., Jankovic, L., Plaseska, D., Juricic, D., and Efremov, G.D.: Br. J. Haematol., 85:143, 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.