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Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage

Landin, B.; Frostad, B.; Brune, M and Ljung, R. LU (1994) In European Journal of Haematology 52(3). p.156-161
Abstract

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. 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... (More)

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. 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 Koln.

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Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
abnormal haemoglobins haemolytic anaemia, point mutation, polymerase chain reaction, Paediatric
in
European Journal of Haematology
volume
52
issue
3
pages
6 pages
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0028183135
ISSN
0902-4441
DOI
10.1111/j.1600-0609.1994.tb01307.x
language
English
LU publication?
yes
id
37ff7d2b-c3ac-4b61-b3b4-be6ee47db044
date added to LUP
2016-11-25 14:02:38
date last changed
2016-11-28 11:46:38
@misc{37ff7d2b-c3ac-4b61-b3b4-be6ee47db044,
  abstract     = {<p>Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. 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 Koln.</p>},
  author       = {Landin, B. and Frostad, B. and Brune, M and Ljung, R.},
  issn         = {0902-4441},
  keyword      = {abnormal haemoglobins haemolytic anaemia,point mutation,polymerase chain reaction,Paediatric},
  language     = {eng},
  number       = {3},
  pages        = {156--161},
  publisher    = {ARRAY(0x94af180)},
  series       = {European Journal of Haematology},
  title        = {Haemoglobin Koln as de novo mutations in Sweden : Diagnosis by PCR and specific enzymatic cleavage},
  url          = {http://dx.doi.org/10.1111/j.1600-0609.1994.tb01307.x},
  volume       = {52},
  year         = {1994},
}