-.-(RT),.a.deletion.of.36.5-40.kb.removi.html


MUTATION		- -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus (see Fig. 24)

AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		The absence of functional alpha and zeta genes results in no synthesis of alpha- and zeta-mRNA
IDENTIFICATION		Gene mapping; see scheme for details
		[Figure not yet available on-line.]
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 15 g/dl; MCV 66 fl; MCH 21 pg; Hb A₂ 2.1%; many Hb H inclusion bodies; a sibling and a child of this person have the same condition
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a 38-year-old male of British-German descent
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None


REFERENCES
1.		Sabath, D.E., Detter, J.C., and Tait, J.F.: Am. J. Clin. Pathol., 102:650, 1994.

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.