Inversions of the factor VIII gene in Swedish patients with severe haemophilia A
(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.
(Less)
- author
- Ljung, R. LU and Sjörin, Elsy LU
- organization
- publishing date
- 1995
- 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
-
- pmid:7781755
- 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
- 2024-01-04 17:15:24
@article{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}}, keywords = {{Factor VIII; Haemophilia; Inhibitor inversion; Paediatric}}, language = {{eng}}, number = {{5}}, pages = {{310--313}}, publisher = {{Wiley-Blackwell}}, 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}}, doi = {{10.1111/j.1600-0609.1995.tb00691.x}}, volume = {{54}}, year = {{1995}}, }