Article
A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases.
Hemoglobin - 1 Feb 2004
Harteveld Cornelis L, Wijermans Pierre W, de Ree Juliette E L M, Ter Hal Pauline, Van Delft Peter, Van Rooijen-Nijdam Irene H, Rasp Ellen, Kok Peter J M J, Souverijn John H M, Versteegh Florens G A, Giordano Piero C
Abstract excerpt
Hb Evanston [alpha14(A12)Trp --> Arg] is considered to be a rare alpha chain mutant, and was originally observed in two Black families in 1982, inducing a mild Hb H disease phenotype in a homozygous state for the -alpha3.7 deletion ( -alpha(Evanston)/ -alpha). The mutant, evidently linked with one of the two -alpha3.7 thalassemia (thal) alleles, was considered to be unstable and rapidly proteolyzed. We describe...
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