MUTATION		5.3 kb deletion; (see Fig. 21)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [-alpha/]
MECHANISM		The deletion removes the 5' end of the alpha2-globin gene; the 5' breakpoint is 822 bp 5' to the Cap site of the psialpha1-globin gene; the 3' breakpoint is in the IVS-I nt 58 of the alpha2-globin gene
IDENTIFICATION		Determined by gene mapping; PCR amplification; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Case RBC 1012/l Hb g/dl PCV l/l MCV fl MCH pg MCHC g/dl A2 % Beta/Alpha Ratio Father 6.2 15.0 0.47 75.0 24.0 32.0 2.7 0.77 Mother 5.0 12.5 0.39 78.0 25.0 32.0 2.5 0.77 Daughter 5.9 11.0 0.41 70.0 19.0 27.0 2.4 0.67
OCCURRENCE		In a family living in Naples, Italy
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Lacerra, G., Fioretti, G, De Angioletti, M., Pagano, L., Guarino, E., de Bonis, C., Viola, A., Maglione, G., Scarallo, A., De Rosa, L., and Carestia, C.: Blood, 78:2740, 1991.

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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.