MUTATION | IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta+ | ||
MECHANISM | The T->G mutation decreases normal splicing | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not presented | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In a Saudi Arabian individual with transfusion-dependent beta-thal major and in a 10-year-old patient from Taiwan | ||
HAPLOTYPE | [- O - - - + - +] (Saudi Arabian) | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With the codons 41/42 (-TTCT) frameshift: Hb 5.9 g/dl; Hb F 77%; Hb A2 1.4%; Hb A 21.6% (Taiwanese); with the IVS-I-110 (G->A) mutation (Saudi Arabian) | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Wong, C., Antonarakis, S.E., Goff, S.C., Orkin, S.H., Forget, B.G., Nathan, D.G., Giardina, P.J.V., and Kazazian, H.H., Jr.: Blood, 73:914, 1989. | ||
2. | Chiou, S.S., Chang, T.T., Chen, P.H., Lee, L.S., Chen, T.S., and Chang, J.G.: Br. J. Haematol., 83: 112, 1993. |