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Inversions of the factor VIII gene in Swedish patients with severe haemophilia A

Ljung, R. LU and Sjörin, Elsy LU (1995) In European Journal of Haematology 54(5). p.310-313
Abstract

The series comprised 49 Swedish patients with severe haemophilia G [belonging to 49 families (21 with known and 28 with sporadic haemophilia)l, of whom 12 had developed F.VIII inhibitors. Using Southern blotting, 45% (22/49) were found to have inversions, i.e., intrachromosomal rearrangements of the tip of the X chromosome. Twenty patients had one or the other of the two variants of inversions recently published, whereas 2 patients manifested novel band patterns. Inversions were found in 50% of the families with sporadic haemophilia, and in 38% of those with known haemophilia. Fourteen families with sporadic haemophilia A had inversions, the proband carrying the de novo mutation in 4 cases and the proband's mother in 10 cases. Six... (More)

The series comprised 49 Swedish patients with severe haemophilia G [belonging to 49 families (21 with known and 28 with sporadic haemophilia)l, of whom 12 had developed F.VIII inhibitors. Using Southern blotting, 45% (22/49) were found to have inversions, i.e., intrachromosomal rearrangements of the tip of the X chromosome. Twenty patients had one or the other of the two variants of inversions recently published, whereas 2 patients manifested novel band patterns. Inversions were found in 50% of the families with sporadic haemophilia, and in 38% of those with known haemophilia. Fourteen families with sporadic haemophilia A had inversions, the proband carrying the de novo mutation in 4 cases and the proband's mother in 10 cases. Six inversions derived from a male and five from a female X-chromosome meiosis, the origin of the remaining three was not established. Genetic counselling of patients with severe haemophilia A and their families will be considerably improved, as inversions occur in half the severe cases and can be detected by a simple Southern blotting procedure.

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author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
Factor VIII, Haemophilia, Inhibitor inversion, Paediatric
in
European Journal of Haematology
volume
54
issue
5
pages
310 - 313
publisher
Wiley-Blackwell
external identifiers
  • Scopus:0029033458
ISSN
0902-4441
DOI
10.1111/j.1600-0609.1995.tb00691.x
language
English
LU publication?
yes
id
7d2593d6-22cc-4388-bd9d-698dc3007b34
date added to LUP
2016-11-25 13:56:49
date last changed
2016-11-28 15:27:36
@misc{7d2593d6-22cc-4388-bd9d-698dc3007b34,
  abstract     = {<p>The series comprised 49 Swedish patients with severe haemophilia G [belonging to 49 families (21 with known and 28 with sporadic haemophilia)l, of whom 12 had developed F.VIII inhibitors. Using Southern blotting, 45% (22/49) were found to have inversions, i.e., intrachromosomal rearrangements of the tip of the X chromosome. Twenty patients had one or the other of the two variants of inversions recently published, whereas 2 patients manifested novel band patterns. Inversions were found in 50% of the families with sporadic haemophilia, and in 38% of those with known haemophilia. Fourteen families with sporadic haemophilia A had inversions, the proband carrying the de novo mutation in 4 cases and the proband's mother in 10 cases. Six inversions derived from a male and five from a female X-chromosome meiosis, the origin of the remaining three was not established. Genetic counselling of patients with severe haemophilia A and their families will be considerably improved, as inversions occur in half the severe cases and can be detected by a simple Southern blotting procedure.</p>},
  author       = {Ljung, R. and Sjörin, Elsy},
  issn         = {0902-4441},
  keyword      = {Factor VIII,Haemophilia,Inhibitor inversion,Paediatric},
  language     = {eng},
  number       = {5},
  pages        = {310--313},
  publisher    = {ARRAY(0xb81c1a8)},
  series       = {European Journal of Haematology},
  title        = {Inversions of the factor VIII gene in Swedish patients with severe haemophilia A},
  url          = {http://dx.doi.org/10.1111/j.1600-0609.1995.tb00691.x},
  volume       = {54},
  year         = {1995},
}