MUTATION | The 13 bp deletion (-CAATAGCCTTGAC at -114 through -102) | ||
---|---|---|---|
IDENTIFICATION | Cloning; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not observed | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Black family | ||
HAPLOTYPE | Type 4 [- - - - - + - +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | With Hb S (n=2): Hb A2 2.1, 2.1%; Hb S 44.7, 47.5%; Hb F 31.8, 30.1%; Ggamma 18.8, 9.9%; Agamma 81.2, 90.1%; Hb A 21.4, 20.3% | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
MECHANISM | Part of the CCAAT motif is deleted preventing the binding of the transacting factors |
REFERENCES | |||
1. | Gilman, J.G., Mishima, N., Wen, X.J., Stoming, T.A., Lobel, J., and Huisman, T.H.J.: Nucleic Acids Res., 16:10635, 1988. |