MUTATION | IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Position 30 AGG->GGG (Arg->Gly) | ||
TYPE OF BETA-THAL | Probably beta° | ||
MECHANISM | This substitution likely abolishes splicing at the normal 5' splicing | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; allele specific testing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 11.4-11.7 g/dl; MCV 61 fl; Hb A2 4.7-5.1%; Hb F <1% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Found in a few Sephardic Jewish families | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | The abnormal Hb with the beta30 Arg->Gly substitution could not be identified |
REFERENCES | |||
1. | Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Fernandes, B.J.: Hemoglobin, in press, 1997. |