TYPE Mexican (epsilongammadeltabeta)°-Thal (see Fig. 17)
CAUSE The condition is caused by a large deletion removing over 105 kb of DNA that extends from at least 40 kb 5' to the epsilon gene to more than 17 kb 3' to the beta gene, thus including the entire beta-globin gene cluster. The deletion terminates before the 3' breakpoint of the Ghanaian HPFH-2 deletion.
DETECTION Gene mapping with different enzymes and probes.
PHENOTYPE A male infant had microcytic anemia at birth. The abnormality was inherited from the father who had a low MCV, normal Hb A2 and Hb F levels, and blood smear typical of beta-thal trait.
DISTRIBUTION Found in one family of Mexican-American origin.
1. Fearon, E.R., Kazazian, H.H., Jr., Waber, P.G., Lee, J.I., Antonarakis, S.E., Orkin, S.H., Vanin, E.R., Henthorn, P.S., Grosveld, F.G., Scott, A.F., and Buchanan, G.R.: Blood, 61:1273, 1983.

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.