MUTATION		- -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes (see Fig. 24)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		The deletion removes both alpha-globin genes; no functional alpha2- and alpha1-mRNAs
IDENTIFICATION		Gene mapping (see scheme below)
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.3 g/dl; MCV 69 fl; MCH 22.2 pg
HEMATOLOGY IN HOMOZYGOTE(S)		None
		[Figure not yet available on-line.]
OCCURRENCE		In a Black family living in Georgia, USA
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S)		The proband was detected as a newborn with ~25.6% Hb Bart's; hematology at 5 months: Hb 10.4 g/dl; MCV 55 fl; MCH 16.6 pg; the baby is compound heterozygote for this new deletion and the -alpha(3.7 kb) alpha-thal-2
OTHER INFORMATION		None

REFERENCES
1.		Fei, Y.J., Liu, J.C., Walker, E.L.D., III, and Huisman, T.H.J.: Am. J. Hematol., 39:299, 1992.

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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.