MUTATION		CTG->CCG at codon 29 of the alpha2 gene
AMINO ACID REPLACEMENT		Leu->Pro (Hb Agrinio)
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		The abnormal alpha chain is apparently severely unstable causing the phenotype of an alpha-thal trait
IDENTIFICATION		Amplification of the alpha2-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.3-15.7 g/dl; MCV 69-81 fl; MCH 23-25 pg; Hb A2 2.4-2.5%; no Hb H; alpha/beta ratio 0.76-0.83
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in three Greek families
HAPLOTYPE		Not determined
FOUND IN COMBINATION		With the poly A mutation (AATAAA->AATAAG): Hb 6.4-7.4 g/dl; MCV 57-67 fl; MCH 20-21 pg; Hb A2 1.9-2.4%; Hb H present but in low quantities; alpha/beta ratio 0.50-0.64
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		Hb X has not been detected

REFERENCES
1.		Hall, G.W., Thein, S.L., Newland, A.C., Chisholm, M., Traeger-Synodinos, J., Kanavakis, E., Kattamis, C., and Higgs, D.R.: Br. J. Haematol., 85:546, 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.