MUTATION		T->C at codon 129 of the alpha2 gene; CTG->CCG
AMINO ACID REPLACEMENT		Leu->Pro at position 129 (Hb Utrecht)
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		Unstable Hb; this results in a deficient level of alpha chains; the mutation is linked to a triplication of the zeta gene (see pedigree)
IDENTIFICATION		Gene mapping; DGGE; SSCA; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.7-17.1 g/dl; MCV 68-89 fl; MCH 21.9-27.0 pg; alpha/beta ratio 0.86-1.01; reticulocytes 1.5-2.1%
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		In a family from the Netherlands (see pedigree); mater-nal family is of Polish-Indonesian-Armenian descent
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
		[Figure not yet available on-line.]

REFERENCES
1.		Harteveld, C.L., Giordano, P.C., Losekoot, M., Heister, J.G.A.M., Batelaan, D., van Delft, P., Bruin, M.C.A., and Bernini, L.F.: Br. J. Haematol., 94:483, 1996.

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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.