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Hb Trollhättan [β20(B2)Val& RR; Glu] — a new haemoglobin variant with increased oxygen affinity causing erythrocytosis
Author(s) -
Landin Britta,
Berglund Stig,
Lindoff Bertil
Publication year - 1994
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1994.tb00174.x
Subject(s) - mutation , globin , microbiology and biotechnology , isoelectric focusing , nucleotide , loss of heterozygosity , gene , point mutation , chemistry , biology , biochemistry , allele , enzyme
Erythrocytosis is sometimes caused by the presence of haemoglobin (Hb) variants with increased oxygen affinity. Here we describe a β‐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 β‐globin gene and subsequent nucleotide sequencing revealed heterozygosity for a GTG& RR; GAG mutation at codon 20, thus suggesting a Val& RR; Glu substitution, which was confirmed at the protein level. This mutation occurs at the same position as Hb Olympia [β20(B2)Val& RR; Met], another variant associated with erythrocytosis due to increased oxygen affinity. The novel variant, Hb Trollhättan [β20(B2)Val& RR; Glu], which was also associated with increased oxygen affinity, was shown to be present in three generations of the patient's family.