Article
Hb Trollhättan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis.
European journal of haematology - 1 Jul 1994
Landin B, Berglund S, Lindoff B
Abstract excerpt
Erythrocytosis is sometimes caused by the presence of haemoglobin (Hb) variants with increased oxygen affinity. Here we describe a beta-globin variant found by isoelectric focusing (IEF) of Hb from a 23-year-old Swedish male with moderate erythrocytosis. Amplification of DNA corresponding to the beta-globin gene and subsequent nucleotide sequencing revealed heterozygosity for a GTG-->GAG mutation at codon 20,...
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