MUTATION		IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		The change in the GT dinucleotide, which is required for the normal splicing event, prevents this process completely and no normal mRNA is produced
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 13.3 g/dl; MCV 62 fl; MCH 21.2 pg; Hb A2 4.5%; Hb F <1.0%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Black family
HAPLOTYPE		[- - - - - + + + -]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The proband had Hb S-beta°-thal: Hb. 7.2 g/dl; MCV 58 fl; MCH 18.1 pg; Hb A2 4.5%; Hb F 6.0%; the patient was severely affected with numerous hospitalizations
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, F., Kutlar, A., McKie, V.C., McKie, K.M., and Huisman, T.H.J.: Br. J. Haematol., 71:113, 1989.
2.		Gonçalves, J., Faustino, P., Lavinha, J., Rosado, L., Peres, M.J., and Martins, M.C.: Am. J. Hematol., 46:373, 1994.

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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.