MUTATION 5.3 kb deletion; (see Fig. 21)
 
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-2 [-alpha/]
MECHANISM The deletion removes the 5' end of the alpha2-globin gene; the 5' breakpoint is 822 bp 5' to the Cap site of the psialpha1-globin gene; the 3' breakpoint is in the IVS-I nt 58 of the alpha2-globin gene
IDENTIFICATION Determined by gene mapping; PCR amplification; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)
Case RBC
1012/l
Hb
g/dl
PCV
l/l
MCV
fl
MCH
pg
MCHC
g/dl
A2
%
Beta/Alpha
Ratio
Father6.215.00.4775.024.032.02.70.77
Mother5.012.50.3978.025.032.02.50.77
Daughter5.911.00.4170.019.027.02.40.67

OCCURRENCE In a family living in Naples, Italy
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Lacerra, G., Fioretti, G, De Angioletti, M., Pagano, L., Guarino, E., de Bonis, C., Viola, A., Maglione, G., Scarallo, A., De Rosa, L., and Carestia, C.: Blood, 78:2740, 1991.


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.