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Haemoglobin Köln as de novo mutations in Sweden: Diagnosis by PCR and specific enzymatic cleavage
Author(s) -
Landin Britta,
Fröstad Björn,
Brune Mats,
Ljung Rolf
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.tb01307.x
Subject(s) - haemolysis , polymerase chain reaction , restriction enzyme , microbiology and biotechnology , parvovirus , restriction fragment length polymorphism , biology , isoelectric focusing , dna , enzyme , gene , genetics , immunology , biochemistry , virus
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 β‐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.