4,237.bp.deletion,.the.Czech.deletion.html


MUTATION		4,237 bp deletion (see Fig. 4); the Czech deletion

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Absence of normal beta-mRNA; no normal beta chain synthesis
IDENTIFICATION		Gene mapping; cloning; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Three heterozygotes: Hb 11.6-13.0 g/dl; MCV 65-67 fl; Hb A₂ 9.0, 8.1, 8.3%; Hb F 3.3, 5.0, 5.7%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Czech-Slovakian family living in Canada
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 part of the IVS-II, exon 2, IVS-I, exon 1, and ~3,000 bp 5' to the initiation codon


REFERENCES
1.		Popovich, B.W., Rosenblatt, D.S., Kendall, A.G., and Nishioka, Y.: Am. J. Hum. Genet., 39:797, 1986.

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.