MUTATION		- -(CL); deletion of at least 40 kb involving the two alpha and the zeta genes (see Fig. 24)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		Deletion of the two alpha-globin genes results in the absence of any functional mRNA
IDENTIFICATION		Not yet reported
HEMATOLOGY IN HETEROZYGOTE(S)		Not yet reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not yet reported
OCCURRENCE		Not reported
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The deletion of the zeta-globin gene makes it more difficult for any fetus with this anomaly to survive, particularly when another deletion is present on the second chro-mosome

REFERENCES
1.		Higgs, D.R.: in The Haemoglobinopathies, edited by D.R. Higgs and D.J. Weatherall, Bailliere's Clinical Haematology, Vol. 6, page 117, W.B. Saunders Company, London, 1993.

---

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.