MUTATION		- -(80 kb); deletion of ~80 kb removing the entire alpha gene locus
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		This deletion results in the complete absence of alpha- and zeta-mRNAs
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		See Ref. 1 for details
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few Black families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With the -alpha(3.7 kb) deletion and Hb G-Philadelphia (see Ref. 1 for details); Hb 11.7 g/dl; MCV 61 fl; MCH 19 pg
OTHER INFORMATION		None

REFERENCES
1.		Milner, P.F. and Huisman, T.H.J.: Br. J. Haematol., 34:207, 1976.
2.		Fei, Y-J.: Sphere, 15(2):1, 1992.

---

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.