MUTATION Codons 108/109/110/111/112 (-12 bp); 
Asn Val Leu Val Cys  Ser
AAC·GTG·CTG·GTC·TGT->AGT
AMINO ACID REPLACEMENT See above
TYPE OF BETA-THAL beta°
MECHANISM The abnormal beta chain is 142 amino acids long, lacking four amino acid residues in the center of the G helix; this beta chain is likely rapidly catabolized by proteolysis
IDENTIFICATION Amplifcation of the beta-globin gene; sequencing of amplified DNA
HEMATOLOGY IN HETEROZYGOTE(S) Found in a 39-year-old Swedish female: Hb 10.4 g/dl; MCV 61 fl; reticulocytes 12%; Hb A2 4.4%; Hb F 2.3; also present in a son and four siblings of the father who is deceased
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a Swedish family
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION Hb stability tests were normal; no Hb variant detectable by IEF
       
REFERENCES
1. Landin, B. and Rudolphi, O.: Abstract 92, Br. J. Haematol., 93, Suppl. 2, 1996.

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.