3.7.kb.(type.I).deletion.involving.the.3.html


MUTATION		3.7 kb (type I) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene

AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [-alpha/]
MECHANISM		See Fig. 22
IDENTIFICATION		Gene mapping; PCR methodology with probes 5' and 3' to the deletion
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.5-15.0 g/dl; MCV 78-88 fl; MCH 25-28 pg; Hb A₂ 1.8-2.8%; Hb F <1%
HEMATOLOGY IN HOMOZYGOTE(S)		Hb 11-13 g/dl; MCV 65-70 fl; MCH 20-23 pg; Hb A₂ 1.8-2.5%; Hb F <1%
OCCURRENCE		The 3.7 kb deletion is the most common TYPE OF ALPHA-THAL-2 found in numerous populations often at extremely high frequencies (India, Far Eastern countries; African populations, Mediterranean populations, etc.)
HAPLOTYPE		Not determined
FOUND IN COMBINATION		Hb S, Hb C, and many other beta chain variants
FOUND IN COMBINATION		With numerous deletional and nondeletional alpha-thal determinants
OTHER INFORMATION		None


REFERENCES
1.		Embury, S.H., Miller, J.A., Dozy, A.M., Kan, Y.W., Chan, V., and Todd, D.: J. Clin. Invest., 66:1319, 1980.
2.		Kazazian, H.H., Jr.: Semin. Hematol., 27:209, 1990.
3.		Higgs, D.R.: in The Haemoglobinopathies, edited by D.R. Higgs and D.J. Weatherall, Bailliere's Clinical Haematology, Vol. 6, page 117, W.B. Saunders Company, London, 1993.
4.		Baysal, E. and Huisman, T.H.J.: Am. J. Hematol., 46:208, 1994.

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.