MUTATION -101 (C->T)
-110      -100  
| |
GACCTCACCCTGT->
GACCTCACCTTGT
AMINO ACID REPLACEMENT None
TYPE OF BETA-THAL beta+ (silent)
MECHANISM Not entirely clear; mutation occurs in the distal CACCC box to which nuclear proteins may not be binding
IDENTIFICATION Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO)
HEMATOLOGY IN HETEROZYGOTE(S) In some Turkish, Bulgarian, Italian, and Greek families: Hb 13.5 g/dl; MCV 86.6 fl; MCH 28 pg; Hb A2 3.5%; Hb F 1.7%; non-alpha/alpha 0.70; about one-third are phenotypically silent (n=33; Ref. 6)
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE
HAPLOTYPE Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) With several beta-thal alleles [frameshift codon 44; frameshift codons 36/37; codon 39; IVS-I-5; IVS-II-745; Refs. 2,5] common in the Mediterranean populations; hematology for codon 39(C->T)/-101(C->T) compound het-erozygotes: Hb 8.8 g/dl; MCV 64 fl; MCH 21 pg (Ref. 7)
OTHER INFORMATION
       
REFERENCES
1. Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, A., Kutlar, F., Lanclos, K.D., Howard, E.F., Fei, Y.J., Aksoy, M., Altay, Ç., Gurgey, A., Basak, A.N., Efremov, G.D., Petkov, G., and Huisman, T.H.J.: Blood, 73:1705, 1989.
2. Ristaldi, M.S., Murru, S., Loudianos, G., Casula, L., Porcu, S., Pigheddu, D., Fanni, B., Sciarratta, G.V., Agosti, S., Parodi, M.I., Leone, D., Camaschella, C., Serra, A., Pirastu, M., and Cao, A.: Br. J. Haematol., 74:480, 1990.
3. Galanello, R., Barella, S., Ideo, A., Gasperini, D., Rosatelli, C., Paderi, L., Paglietti, E., Sollaino, C., Perseu, L., Loi, D., and Cao, A.: Am. J. Hematol., 46:79, 1994.
4. Baysal, E., Ribeiro, M.L.S., and Huisman, T.H.J. : Acta Haematol., 91:16, 1994.
5. Rund, D., Oron-Karni, V., Filon, D., Goldfarb, A., Rachmilewitz, E., and Oppenheim, A.: Am. J. Hematol., 54:16, 1997.
6. Kanavakis, E., Maragoudaki, E., Traeger-Synodinos, J., Metaxotou-Mavromati, A., Vrettou, C., and Kattamis, C.: Abstract 39, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 1197.
7. Mastrullo, L., De Angioletti, M., Lacerra, G., Miraglia, E., Romano, R., de Biasi, R., and Carestia, C.: Abstract 146, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 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.