Codon.100,.-CTT,.+TCTGAGAACTT.html


MUTATION		Codon 100; -CTT, +TCTGAGAACTT

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta° (dominant type)
MECHANISM		Frameshift; abnormal beta chain sequence beyond position 99; extended chain (158 amino acids); stop codon at new codon 159
IDENTIFICATION		Amplification of the beta-globin gene; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.6 g/dl; MCV 79.8 fl; MCH 25.8 pg; reticulocytes 3.7%; no Heinz bodies; marked morphological changes; Hb F 18.0%; Hb A₂ 2.9%
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		Found in a South African female with mild beta-thal intermedia
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		alpha-Thal was excluded (alphaalpha/alphaalpha); the hyperunstable Hb was not detected


REFERENCES
1.		Williamson, D., Brown, K.P., Langdown, J.V., and T.P. Baglin.: Hemoglobin, in press, 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.