Download PDF
Thromb Haemost 2008; 99(04): 774-775
DOI: 10.1160/TH07-12-0731
Case Report
Schattauer GmbH

Unique heterozygous intron 22 inversion band pattern in a haemophilic male detected by long polymerase chain reaction (PCR)

Bimal D. M. Theophilus
1   Molecular Haemostasis Laboratory, Department of Haematology, The Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK
,
Mohammed S. Enayat
1   Molecular Haemostasis Laboratory, Department of Haematology, The Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK
,
Peter M. Green
2   Department of Medical and Molecular Genetics, Kings College School of Medicine, London, UK
,
Jonathan T. Wilde
3   Department of Haematology, The University Hospital NHS Trust, Birmingham, UK
,
Frank G. H. Hill
1   Molecular Haemostasis Laboratory, Department of Haematology, The Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK
› Author Affiliations
Further Information

Publication History

Received: 10 December 2007

Accepted after major revision: 26 February 2008

Publication Date:
25 November 2017 (online)

Also available at
    Permissions and Reprints

 

 

  • References

  • 1 Lakich D, Kazazian HH, Antonarakis SE. et al. Inversions disrupting the factor VIII gene as a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
    CrossrefPubMedSearch in Google Scholar
  • 2 Naylor J, Brinke A, Hassock S. et al. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-1778.
    CrossrefPubMedSearch in Google Scholar
  • 3 Liu Q, Nozari G, Sommer S. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in Haemophilia A. Blood 1998; 92: 1458-1459.
    PubMedSearch in Google Scholar
  • 4 Perry DJ, Goodeve A, Hill M. et al. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia. Thromb Haemost 2006; 96: 597-601.
    Thieme ConnectPubMedSearch in Google Scholar
  • 5 Bagnall RD, Giannelli F, Green PM. Polymorphism and haemophilia A causing inversions in distal Xq28: a complex picture. J Thromb Haemost 2005; 3: 2598-2599.
    CrossrefPubMedSearch in Google Scholar
  • 6 Green PM, Hill M, Bowen D. et al. Duplications involving int22h-1 of the factor VIII gene and the extragenic homologs int22h-2 and int22h-3: a cause for concern in genetic testing for haemophilia A?. J Thromb Haemost 2007; 5: 2155-2156.
    CrossrefPubMedSearch in Google Scholar
  • 7 Enayat MS, Theophilus BDM, Williams MD. et al. Another variant pattern of intron 22 inversion in the Factor VIII gene seen in a severe Haemophilia A patient. Thromb Haemost 1997; 78: 1303.
    Thieme ConnectPubMedSearch in Google Scholar
  • 8 Bagnall RD, Giannelli F, Green PM. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 2006; 4: 591-598.
    CrossrefPubMedSearch in Google Scholar