MUTATION | T->C at codon 129 of the alpha2 gene; CTG->CCG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Leu->Pro at position 129 (Hb Utrecht) | ||
TYPE OF ALPHA-THAL | alpha-Thal-2 [alpha(T)alpha/alphaalpha] | ||
MECHANISM | Unstable Hb; this results in a deficient level of alpha chains; the mutation is linked to a triplication of the zeta gene (see pedigree) | ||
IDENTIFICATION | Gene mapping; DGGE; SSCA; sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Hb 12.7-17.1 g/dl; MCV 68-89 fl; MCH 21.9-27.0 pg; alpha/beta ratio 0.86-1.01; reticulocytes 1.5-2.1% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None observed | ||
OCCURRENCE | In a family from the Netherlands (see pedigree); mater-nal family is of Polish-Indonesian-Armenian descent | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None | ||
[Figure not yet available on-line.] |
REFERENCES | |||
1. | Harteveld, C.L., Giordano, P.C., Losekoot, M., Heister, J.G.A.M., Batelaan, D., van Delft, P., Bruin, M.C.A., and Bernini, L.F.: Br. J. Haematol., 94:483, 1996. |