MUTATION		-(alpha)5.2; deletion of 5,201 bp (see Fig. 24)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		Deletion of alpha2 and part of alpha1; no functional mRNA
IDENTIFICATION		Amplification; DNA sequencing; gene mapping; the deletion extends for 870 nts 5' to the alpha2-globin gene to nt 519 of the alpha1-globin gene; the truncated alpha1 gene has a duplicated segment of 27 nts corresponding to the 3' end of the IVS-II of the alpha1-globin gene separated by GGTT
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.4 g/dl; MCV 67 fl; MCH 20.7 pg; alpha/beta ratio 0.7
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a few Greek and Italian families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With alpha-thal alleles; the proband (7-year-old female) had Hb H disease: Hb 7.3 g/dl; MCV 57 fl; MCH 16.6 pg; Hb A2 1.5%; Hb H 5%; Hb Bart's 5%; alpha/beta ratio 0.4; combination of the new 5.2 kb deletion and the AATAAA->AATGAA poly A mutation
OTHER INFORMATION		None

REFERENCES
1.		Pressley, L., Higgs, D.R., Aldridge, B., Metaxotou-Mavromati, A., Clegg, J.B., and Weatherall, D.J.: Nucleic Acids Res., 8:4889, 1980.
2.		Fortina, P., Parrella, T., Sartore, M., Gottardi, E., Gabutti, V., Delgrosso, K., Mansfield, E., Rappaport, E., Schwartz, E., Camaschella, C., and Surrey, S.: Blood, 83:3356, 1994.

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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.