MUTATION Codons 2/3/4 (-9 bp; +31 bp); (see below)
 
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta°
MECHANISM Stop codon at the new codon 8 (TGA)
IDENTIFICATION Amplification; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Father is a simple heterozygote; no hematological data presented
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In an Algerian family
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) Found in twin sisters with S-beta°-thal; Hb 8.9-9.4 g/dl; MCV 78-69 fl; MCH 23.7-21.0 pg; Hb F 9.2 and 7.7%; Hb A2 6.0 and 4.5%; splenectomized
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION The deletion and insertion: 
 
ATG·GTG·CAC·CTG·ACT·CCT·GAG·GTG·AAG·TCT·G·
     1   2   3   4                        
        <-deletion-><--------insertion----
 
CCT·GAG·GAG·AAG·TCT·CCT·GAG·GAG·AAG·TCT·  
                     5   6   7   8   9    
---insertion------>
       
REFERENCES
1. Badens, C., Thuret, I., Michel, G., Krawczak, M., Mattei, J-F., Lena-Russo, D., Labie, D., and Elion, J.: Hum. Mutat., 8:98, 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.