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.