10,329.bp.deletion,.the.Asian.Indian.del.html


MUTATION		10,329 bp deletion (see Fig. 4); the Asian Indian deletion

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		No beta chain synthesis
IDENTIFICATION		Gene mapping; sequencing of a specifically amplified region of genomic DNA
HEMATOLOGY IN HETEROZYGOTE(S)		Four family members: Hb 9.9-12.9 g/dl; MCV 64-73 fl; MCH 20.4-22.9 pg; Hb A₂ 7.8, 7.1, 7.5%; Hb F 3.5, 3.2, 4.7%
HEMATOLOGY IN HOMOZYGOTE(S)		The proband is a homozygote: Hb 8.8 g/dl; MCV 77 fl; MCH 24.4 pg; Hb A₂ 2.0%; Hb F 98.0%
OCCURRENCE		In an Indian family
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 entire beta-globin gene


REFERENCES
1.		Craig, J.E., Kelly, S.J., Barnetson, R., and Thein, S.L.: Br. J. Haematol., 82:735, 1992.

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.