title: Haemoglobin Köln as de novo mutations in Sweden: diagnosis by PCR and specific enzymatic cleavage.
abstract: Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Köln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all seem to have occurred as de novo mutations. Diagnosis was based on haemoglobin instability testing and isoelectric focusing of haemoglobin dimers. The final identification procedure for the substitutions included extraction of DNA from whole blood, polymerase chain reaction (PCR) amplification of parts of the beta-globin gene and nucleotide sequencing of the resulting material, or studies of restriction length polymorphisms (RFLPs) using the restriction endonucleases Mae II or Nla III. The use of PCR-RFLP is recommended as a valuable tool for diagnosing Hb Köln.
authors.affiliation: Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Sweden.
authors.forename: B
authors.initials: B
authors.lastname: Landin
authors.forename: B
authors.initials: B
authors.lastname: Fröstad
authors.forename: M
authors.initials: M
authors.lastname: Brune
authors.forename: R
authors.initials: R
authors.lastname: Ljung
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D002648:Child; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D017931:DNA Primers; D006455:Hemoglobins, Abnormal; D005914:Globins; C034409:hemoglobin Koln