MUTATION		18 kb deletion; (see Fig. 22)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 (severe) [-alpha/]
MECHANISM		The 5' end of the deletion is located between the BglII and SstI sites 3' to the alpha2-globin gene and involves the alpha1, theta1, and 3'HVR sequences
IDENTIFICATION		Data were obtained by gene mapping (for location of the deletion)
		[Figure not yet available on-line.]
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Observed in a 37-year-old resident of Brno (Slovakia) who originated from Poland
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The proband had a mild anemia (12.6 g/dl; PCV 0.396 l/l; RBC 5.84 x 1012/l) and a significant microcytosis and hypochromia (MCV 67.8 fl; MCH 21.6 pg); Hb A2 2.3%; no iron deficiency; alpha/beta ratio 0.62-0.66

REFERENCES
1.		Indrak, K., Gu, Y-C., Novotny, J., and Huisman, T.H.J.: Am. J. Hematol., 43:144, 1993.

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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.