MUTATION		- -(BRIT); deletion of ~26 kb involving both alpha genes (see Fig. 24)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		Deletion of both alpha-globin genes results in the absence of any alpha-mRNAs
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.5-13.5 g/dl; MCV and MCH decreased
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few British families and in a Black family
HAPLOTYPE		Not determined
FOUND IN COMBINATION		With Hb S
FOUND IN COMBINATION		With the -alpha(3.7 kb) deletion causing Hb H disease: Hb 9 g/dl; MCV 55-60 fl; MCH 17-20 pg; Hb H ~12%; alpha/beta ratio ~0.5-0.6
OTHER INFORMATION		None

REFERENCES
1.		Higgs, D.R., Ayyub, H., Clegg, J.B., Hill, A.V.S., Nicholls, R.D., Teal, H., Wainscoat, J.S., and Weatherall, D.J.: Br. Med. J., 290:1303, 1985.
2.		Steinberg, M.H., Coleman, M.B., Adams, J.G., III, Hartmann, R.C., Saba, H., and Anagnou, N.P.: Blood, 67:469, 1986.

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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.