MUTATION | -202 (C->T) Agamma; nd-HPFH | ||
---|---|---|---|
IDENTIFICATION | Cloning; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not observed | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Black family | ||
HAPLOTYPE | [+ - - - - - + +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb S: Hb F 2.5 (1.6-3.9)% (n=5); Hb A2 2.7 (2.6-2.8)% (n=5); Ggamma 7.2 (4.1-10.9)% (n=5); Agamma 92.8 (89.1-95.9)% (n=5) | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
MECHANISM | This mutation may affect the binding of SpI or modify an intramolecular structure of DNA [see also -202 (C->G) Ggamma] |
REFERENCES | |||
1. | Hattori, Y., Kutlar, F., Mosley, C.J., Mayson, S.M., and Huisman, T.H.J.: Hemoglobin, 10:185, 1986. | ||
2. | Gilman, J.G., Mishima, N., Wen, X.J., Kutlar, F., and Huisman, T.H.J.: Blood, 72:78, 1988. |