MUTATION | -175 (T->C) Agamma; the Black nd-HPFH | ||
---|---|---|---|
IDENTIFICATION | Amplification and DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Normal: Hb F 37.0, 38.5, 36.7%; Ggamma 18.1, 25.9, 37.9%, the Ggamma gene of the same chromosome had a T at -158; Hb A2 1.2; 1.6; 1.6% | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a few Black families | ||
HAPLOTYPE | [- + + - + + + +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb C: A 15.7%; A2 1.6%; F 37.3%; C 45.4% | ||
With Hb S: A 16.8%; A2 1.9%; F 40.4%; S 41.0% | |||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not observed | ||
MECHANISM | Alteration of the binding of (a) transacting factor(s) [see -175 (T->C) Ggamma] |
REFERENCES | |||
1. | Stoming, T.A., Stoming, G.S., Lanclos, K.D., Fei, Y.J., Altay, C., Kutlar, F., and Huisman, T.H.J.: Blood, 73:329, 1989. | ||
2. | Coleman, M.B., Adams, J.G., III, Steinberg, M.H., Plonczynski, M.W., Harrell, A.H., Castro, O., and Winter, W.P.: Am. J. Hematol., 42:186, 1993. |