532.bp.deletion.html


MUTATION		532 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		Amplification of the beta-globin gene; sequencing; gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb A₂ 8.6%; Hb F 0.2% (father)
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Black family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The probands are 9-month-old twins, one with Hb S-beta°-thal and one with Hb C-beta°-thal; their mother has SC disease
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The deletion involves the 5' end of exon 1 and ~500 bp of the 5'UTR


REFERENCES
1.		Waye, J.S., Cai, S-P., Eng, B., Clark, C., Adams, J.G., III, Chui, D.H.K., and Steinberg, M.H.: Blood, 77:1100, 1991.

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.