MUTATION | -88 (C->A) | ||
---|---|---|---|
-90 -85 | |||
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta+ | ||
MECHANISM | This mutation decreases the transcription of the beta-globin gene because of decreased binding of transcriptional factors | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO) | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Found in one Kurdish Jewish patient from Western Iran | ||
HAPLOTYPE | IX | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Proc. Natl. Acad. Sci. USA, 88:310, 1991. |