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.
(Less)
- author
- Landin, B.
; Frostad, B.
; Brune, M
and Ljung, R.
LU
- organization
- publishing date
- 1994
- 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
-
- pmid:8168595
- 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
- 2024-01-04 17:16:48
@article{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}},
keywords = {{abnormal haemoglobins haemolytic anaemia; point mutation; polymerase chain reaction; Paediatric}},
language = {{eng}},
number = {{3}},
pages = {{156--161}},
publisher = {{Wiley-Blackwell}},
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}},
doi = {{10.1111/j.1600-0609.1994.tb01307.x}},
volume = {{52}},
year = {{1994}},
}