MUTATION		- -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes (see Fig. 24)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		The deletion of both alpha2- and alpha1-globin genes results in the absence of alpha2- and alpha1-mRNAs
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12-14 g/dl; significant microcytosis; hypochromia
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Spanish family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S)		Found in one patient with Hb H disease; combination of new allele and the -alpha(3.7 kb) deletion; severe microcytosis; hypochromia; Hb 8-10 g/dl
OTHER INFORMATION		None

REFERENCES
1.		Villegas, A., Perez Gutierrez, A., Diaz MediaVilla, J., and Espinos, D.: Sangre, 24:1088, 1979.
2.		Villegas, A., Calero, F., Vickers, M.A., Ayyub, H., and Higgs, D.R.: Eur. J. Haematol., 44:109, 1990.

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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.