Biomaterial Database

Hb Trollhättan [beta 20(B2)Val-->Glu]--a new haemoglobin variant with increased oxygen affinity causing erythrocytosis. 1994

B Landin, and S Berglund, and B Lindoff

Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.

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, thus suggesting a Val-->Glu substitution, which was confirmed at the protein level. This mutation occurs at the same position as Hb Olympia [beta 20(B2)Val-->Met], another variant associated with erythrocytosis due to increased oxygen affinity. The novel variant, Hb Trollhättan [beta 20(B2)Val-->Glu], which was also associated with increased oxygen affinity, was shown to be present in three generations of the patient's family.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008969	Molecular Sequence Data	Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.	Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D010100	Oxygen	An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.	Dioxygen,Oxygen-16,Oxygen 16
D011086	Polycythemia	An increase in the total red cell mass of the blood. (Dorland, 27th ed)	Erythrocytosis,Erythrocytoses,Polycythemias
D003062	Codon	A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).	Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons
D004247	DNA	A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).	DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D005914	Globins	A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.	Globin
D005971	Glutamates	Derivatives of GLUTAMIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the 2-aminopentanedioic acid structure.	Glutamic Acid Derivatives,Glutamic Acids,Glutaminic Acids
D006239	Haplotypes	The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.	Haplotype