MUTATION | IVS-II-848 (C->G); | ||
---|---|---|---|
105 105 | |||
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta+ | ||
MECHANISM | Replacement of C at position 848 next to the AG acceptor splicing site decreases the efficiency of splicing | ||
IDENTIFICATION | Cloning of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 9.9-10.7 g/dl; MCV 66-72 fl; MCH 20.1-21.2 pg; Hb A2 6.4-6.8%; Hb F 1.2-2.1% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In a Japanese family | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Hattori, Y., Yamamoto, Ku., Yamashiro, Y., Ohba, Y., Miyamura, S., Yamamoto, Ki., Matsuno, Y., Morishita, M., Miyaji, T., and Era, T.: Hemoglobin, 16:93, 1992. |