MUTATION | -117 (G->A) Agamma; the Black-Greek nd-HPFH | ||
---|---|---|---|
IDENTIFICATION | Amplification; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Normal: Hb F 13.3 (10.9-15.9)% (n=13); Ggamma 15.0%; Agamma 85.0%; Hb A2 1.8 (1.6-2.2)% (n=13) | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In one Black family | ||
HAPLOTYPE | Type 4 [- - - - + - +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None observed | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not observed | ||
MECHANISM | This mutation is likely an independent occurrence because of differences in haplotypes |
REFERENCES | |||
1. | Huang, H.J., Stoming, T.A., Harris, H.F., Kutlar, F., and Huisman, T.H.J.: Am. J. Hematol., 25:401, 1987. |