290.bp.deletion.html


MUTATION		290 bp deletion (see Fig. 3)

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA formation; no synthesis of normal beta chain
IDENTIFICATION		Gene mapping; haplotyping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12-14 g/dl; MCV 67-68 fl; MCH 22 pg; Hb A₂ 7.1, 8.1%; Hb F 3.3, 2.7%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few Turkish and Bulgarian families
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The deletion involves part of the 5'UTR, exon 1, and the 5' end of IVS-I


REFERENCES
1.		Diaz-Chico, J.C., Yang, K.G., Kutlar, A., Reese, A.L., Aksoy, M., and Huisman, T.H.J.: Blood, 70:583, 1987.
2.		Aulehla-Scholz, C., Spiegelberg, R., and Horst, J.: Hum. Genet., 81:298, 1989.

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.