MUTATION | -196 (C->T) Agamma; the Italian nd-HPFH | ||
---|---|---|---|
IDENTIFICATION | Cloning; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Normal; alpha/non-alpha ratio 0.92-0.99; | ||
Hb F 14.3 (12.0-16.0)%(n=3); Ggamma <5.0%; | |||
Hb A2 2.2 (1.9-2.7)% (n=3) | |||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In Italian families | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With the codon 39 (C->T) beta-thal allele (Hb A2 4.0; 4.2%; Hb F 38.0; 40.0%; Ggamma 20.0%; Agamma 80.0%) | ||
MECHANISM | It is possible that this mutation alters the affinity of a transacting factor [see also -202 (C->G) Ggamma] |
REFERENCES | |||
1. | Giglioni, B., Casini, C., Mantovani, R., Merli, S., Comi, P., Ottolenghi, S., Saglio, G., Camaschella, C., and Mazza, U.: EMBO J., 3:2641, 1984. |