MUTATION		- -(115 kb); a deletion of at least 115 kb removing the entire alpha gene complex
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		The deletion of the entire complex results in the complete absence of alpha- and zeta-mRNAs
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Black girl living in Savannah, GA, USA
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With alpha-thal-2 and Hb S in a Black patient with Hb H disease, Hb S (19.9%), and mental retardation (Hb 8.9 g/dl; MCV 55 fl; MCH 16.1 pg; Hb H 1.1%; Hb A2 2.5%; alpha/beta ratio 0.23
OTHER INFORMATION		Hematology data over a period of 13 years
		Age Hb g/dl PCV l/l RBC 1012/l MCV fl MCH pg Retics % A2 % S % H % 1 9.0 0.278 5.20 53.0 17.3 - - - - 4 8.9 0.285 5.21 55.0 17.1 2.2 2.4 19.9 1.1 6 8.6 0.275 4.50 61.0 19.1 4.6 - - - 7 8.3 0.270 4.98 54.0 16.7 4.2 3.0 21.1 1.2 8 9.1 0.265 4.79 55.0 19.0 2.0 - - - 9 9.2 0.285 5.26 54.0 17.5 5.2 2.9 20.5 1.3 12 9.3 0.276 5.34 51.0 17.4 2.6 - - - 14 8.8 0.282 5.16 54.7 17.1 - - - -

REFERENCES
1.		Felice, A.E., Cleek, M.P., McKie, K., McKie, V., and Huisman, T.H.J.: Blood, 63:1253, 1984.

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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.