3'UTR.(-16.bp).alpha2.gene.html


MUTATION		3'UTR (-16 bp) alpha2 gene
		ccggcccttcctggtctttgAATAAAgt->ccggc___ATAAA
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		Not entirely clear; this deletion in the UTR affects the processing of mRNA; polyadenylation may be impaired
IDENTIFICATION		Gene mapping; amplification of the alpha2-globin gene; automated sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.0-11.7 g/dl; MCV 63-79 fl; MCH 20-25 pg; Hb A₂ 2.9-3.2%; Hb F 0.5-1.5%; alpha/beta ratio 0.65-0.75
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In an Arab family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		mRNA analyses not performed


REFERENCES
1.		Tamary, H., Klinger, G., Shalmon, L., Attias, D., Fortina, P., Kobayashi, M., Surrey, S., and Zaizov, R.: Hemoglobin, 21:121, 1997.

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.