~7.6.kb.deletion,.the.Turkish.deletion.html


MUTATION		~7.6 kb deletion (see Fig. 4); the Turkish deletion

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		No beta chain synthesis
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.3-11.9 g/dl; MCV 64-67 fl; MCH 18 pg; Hb A₂ 6.6, 8.5%; Hb F 1.0, 1.9%
HEMATOLOGY IN HOMOZYGOTE(S)		The homozygous proband is a few months old infant with severe anemia and the product of a consanguineous marriage
OCCURRENCE		In a Turkish 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 and segments 5' and 3' to this gene; a second deletion of the same size is present and involves the psibeta gene; the delta gene is intact


REFERENCES
1.		Öner, C., Öner, R., Gürgey, A., and Altay, Ç.: Br. J. Haematol., 89:306, 1995.

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.