MUTATION | Codon 61 (A->T); AAG(Lys)->TAG(stop codon) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This A->T mutation changes codon 61 into a stop codon causing a premature termination of translation | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing ; dot-blot analysis with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | The father of the proband is heterozygous for this allele: Hb 11.1 g/dl; MCV 65 fl; Hb A2 4.1%; Hb F 0.8% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None | ||
OCCURRENCE | Found in one Black family from Georgia, USA | ||
HAPLOTYPE | [ - - - - - + + +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | The proband is a young compound heterozygote [codon 6(-A)/codon 61(A->T)] with severe thalassemia major: Hb 6.9 g/dl; MCV 77.9 fl; MCH 24.7 pg; Hb A2 1.5%; Hb F 98.5% | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988. |