MUTATION | -110 (A->C) Ggamma; the Czech nd-HPFH | ||
---|---|---|---|
IDENTIFICATION | Amplification; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Normal: Hb F 0.8, 0.6%; Ggamma 93.6, 96.8%; Agamma 6.4, 3.2%; Hb A2 2.6, 2.7% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Czech family | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With the codons 38/39 (-C) frameshift; Hb F 3.1%; Hb A2 5.8%; Ggamma 95.7%; Agamma 4.3% | ||
MECHANISM | The effect of this mutation is minimal |
REFERENCES | |||
1. | Indrak, K., Indrakova, J., Kutlar, F., Pospisilova, D., Sulovska, I., Baysal, E., and Huisman, T.H.J.: Ann. Hematol., 63:111, 1991. |