MUTATION		Codon 47 (+A); GAT(Asp)->GAA(Glu)·T
AMINO ACID REPLACEMENT		See above
TYPE OF BETA-THAL		beta°
MECHANISM		The insertion of an extra A in codon 47 introduces a frameshift with a stop codon at codon 52 (TGA) and termination of translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific oligonucleotide probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Found in 14 members of a family from Surinam: Hb 9.4-12.1 g/dl; MCV 68-85 fl; anisopoikilocytosis, microcytosis, target cells; Hb A2+Hb B2 3.5-4.5%; Hb F <1.0%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In only one family from Surinam
HAPLOTYPE		Unknown
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		The mutation occurs together with a delta chain variant (codon 16, G->C) on the same chromosome (linkage of Hb B2 and beta-thal) (Ref. 1)

REFERENCES
1.		Huisman, T.H.J., Punt, K., and Schaad, J.D.G.: Blood, 17:747, 1961.
2.		Codrington, J.F., Li, H-W., Kutlar, F., Gu, L-H., Ramachandran, M., and Huisman, T.H.J.: Blood, 76:1246, 1990.
3.		Losekoot, M., Fodde, R., van Heeren, H., Harteveld, C.L., Giordano, P.C., and Bernini, L.F.: Hemoglobin, 14:467, 1990.

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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.