HB F-Macedonia-II [^Gγ104(G6)LYS→ASN]: A New γ chain variant

Abstract

In the course of our newborn screening program for the presence of hemoglobinopathies in the Republic of Macedonia, we have detected a new ^Gγ chain variant with a Lys→Asn or AA→Á→substitution at codon 104. The variant was found in a blood sample from a healthy baby boy of Macedonian nationality. The abnormal chain was quantitated at 32.4% of the total γ chains by reversed phase high performance liquid chromatography. The characterization of the variant was by sequence analysis of polymerase chain reaction-amplified DNA. The presence of the mutation in the mother was confirmed by Hph I restriction enzyme digestion of the polymerase chain reaction-amplified DNA fragment. Although the mutated G is the last nucleotide of exon 2 and part of the donor splice site sequence of the second intervening sequence of the ^Gγ gene, it appears that the splicing of the mRNA in this variant is not altered.