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Hemoglobin. 1994 Nov;18(6):373-82.

Hb F-Macedonia-II [G gamma 104(G6)Lys-->Asn]: a new gamma chain variant.

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Macedonian Academy of Sciences and Arts Research Center for Genetic Engineering and Biotechnology, Skopje, Republic of Macedonia.


In the course of our newborn screening program for the presence of hemoglobinopathies in the Republic of Macedonia, we have detected a new G gamma chain variant with a Lys-->Asn or AAG-->AAC 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 gamma 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 G gamma gene, it appears that the splicing of the mRNA in this variant is not altered.

[Indexed for MEDLINE]

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