MUTATION | Codons 9/10 (+T); TCT·GCC(Ser;Ala)->TCT·T·GCC | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This frameshift results in termination of translation at codon 22 (TGA) | ||
IDENTIFICATION | Sequencing of amplified DNA; dot-blot hybridization of the PCR product with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 14.0 g/dl; MCV 65.7 fl; Hb A2 5.8%; Hb F 1% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None known | ||
OCCURRENCE | In one Greek family | ||
HAPLOTYPE | Unknown | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None known | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With IVS-I-110 (G->A) gives severe anemia (Hb 7.5 g/dl; MCV ~62 fl; Hb A2 3.1%; Hb F 85%) | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Waye, J.S., Eng, B., Olivieri, N.F., and Chui, D.H.K.: Prenatal Diagn., 14:929, 1994. |