MUTATION | IVS-II-850 (G->C); | ||
---|---|---|---|
105 105 | |||
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The G->C change in the AG dinucleotide, which is required for normal splicing, abolishes this process, and no normal mRNA is produced | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Average values: Hb 12.1 g/dl; MCV 66.3 fl; MCH 21.2 pg; Hb A2 5.4%; Hb F 2.4%; beta/alpha ratio 0.51 | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In four members of a Yugoslavian family | ||
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. | Jankovic, L., Dimovski, A.J., Sukarova, E., Juricic, D., and Efremov, G.D.: Haematologica, 77:119, 1992. |