MUTATION		- -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes (see Fig. 24 for location)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		The deletion of the two alpha-globin genes prevents the formation of functional alpha-mRNAs
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.6-15.2 g/dl; MCV 61-71 fl; MCH 20-24 pg; Hb A2 1.0-2.4%; alpha/beta ratio 0.6-0.7
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In three members of a Spanish family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S)		Not observed
OTHER INFORMATION		No inclusion bodies

REFERENCES
1.		Villegas, A., Sanchez, J., Ricard, P., Gonzalez, F.A., Del Potro, E., Armada, B., Carreno, D.L., and Espinos, D.: Hemoglobin, 18:29, 1994.

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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.