MUTATION | IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta+ (severe) | ||
MECHANISM | The C->T mutation creates a new restriction site which is preferentially used | ||
IDENTIFICATION | Cloning or amplification of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 9.6-14.1 g/dl; MCV 64.0-70.5 fl; MCH 20.1-21.9 pg; Hb A2 3.9-5.8% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Transfusion-dependent thalassemia major | ||
OCCURRENCE | In Chinese and other East Asian populations (see Tables XII, XIII, and XIV) | ||
HAPLOTYPE | Type I | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb E | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With several alleles [-28 (A->G) and codons 41/42 (-TTCT)] | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Cheng, T-C., Orkin, S.H., Antonarakis, S.E., Potter, M.J., Sexton, J.P., Markham, A.F., Giardina, P.J.V., Li, A., and Kazazian, H.H., Jr.: Proc. Natl. Acad. Sci. USA, 81:2821, 1984. |