MUTATION Codons 37/38/39 (-7 nts)
 37  38  39  40               40 
TGG·ACC·CAG·AGG->TG- --- ---·AGG)
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Loss of seven nucleotides results in a frameshift with a termination codon at the new codon 37 (TGA)
IDENTIFICATION AvaII digestion; cloning of the beta-globin gene; sequenc-ing
HEMATOLOGY IN HETEROZYGOTE(S) Not given
HEMATOLOGY IN HOMOZYGOTE(S) Patient is a homozygote; parents are first cousins; no hematology data provided
OCCURRENCE Turkish family
HAPLOTYPE Type I
FOUND IN COMBINATION WITH ABNORMAL HB(S) None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) None
OTHER INFORMATION None
       
REFERENCES
1. Schnee, J., Griese, E-U., Eigel, A., and Horst, J.: Blood, 73:2224, 1989.


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.