MUTATION | Codon 5 (-CT); CCT(Pro)->C-- | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This frameshift results in the termination of translation at codon 21 (TGA) | ||
IDENTIFICATION | Sequencing of amplified DNA | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 10.2-11.8 g/dl; MCV 68-81 fl; MCH 18.8-20.7 pg; Hb A2 5.2-5.5%; Hb F 1-2% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None known | ||
OCCURRENCE | Found in Greeks, Macedonians, Turks; allele is quite rare; see also Tables IV, V, VI, and IX | ||
HAPLOTYPE | V; [+ O - - - - + -] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None known | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | IVS-I-1 (G->A) | ||
OTHER INFORMATION | The compound heterozygote [FSC 5(-CT)/IVS-I-5 (G->A)] has a severe form of thalassemia major requir-ing multiple transfusions |
REFERENCES | |||
1. | Kollia, P., Gonzalez-Redondo, J.M., Stoming, T.A., Loukopoulos, D., Politis, C., and Huisman, T.H.J.: Hemoglobin, 13:597, 1989. |