| MUTATION | IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT | ||
|---|---|---|---|
| AMINO ACID REPLACEMENT | None | ||
| TYPE OF BETA-THAL | beta° | ||
| MECHANISM | The G->A change in the GT dinucleotide, which is required for the normal splicing mechanism, prevents this process completely and no normal mRNA is produced | ||
| IDENTIFICATION | Cloning or amplification of the beta-globin gene; DNA sequencing | ||
| HEMATOLOGY IN HETEROZYGOTE(S) | From Ref. 3 (n=5): Hb 10.55±1.4 g/dl; MCV 70.0±7.9 fl; MCH 19.6±0.9 pg; Hb A2 5.15±0.4%; Hb F 3.1±1.35% | ||
| HEMATOLOGY IN HOMOZYGOTE(S) | Transfusion-dependent beta-thal major | ||
| OCCURRENCE | Asian Indians; several Asian populations including the Middle East; Cyprus; see Tables III, IV, V, VI, VII, and XV; high frequency in Southwestern Spain (Ref. 2) | ||
| HAPLOTYPE | V [+ O - - - - + -] | ||
| FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb S, also Hb E | ||
| FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With several alleles | ||
| OTHER INFORMATION | None |
| REFERENCES | |||
| 1. | Orkin, S.H., Kazazian, H.H., Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., and Giardina, P.J.V.: Nature, 296:627, 1982. | ||
| 2. | Bento, A., Villegas, A., Perez-Cano, R., and Bernal, R.: Br. J. Haematol., 92:336, 1996. | ||
| 3. | Öner, R., Altay, Ç., Gurgey, A., Aksoy, M., Kilinç, Y., Stoming, T.A., Reese, A.L., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 14:1, 1990. | ||
| 4. | Indrak, K., Fei, Y.J., Li, H-W., Baysal, E., Brabec, V., Fortova, H., Cermak, J., and Huisman, T.H.J.: Ann. Hematol., 62:42, 1991. | ||
| 5. | Baysal, E., Indrak, K., Bozkurt, G., Berkalp, G., Aritkan, E., Old, J.M., Ioannou, P., Angastiniotis, M., Droushiotou, A., Yuregir, G.T., Kilinç, Y., and Huisman, T.H.J.: Br. J. Haematol., 81:607, 1992. | ||