Another Variant Pattern of Intron 22 Inversion in the Factor VIII Gene Seen in a Severe Haemophilia A Patient

Thromb Haemost 1997; 78(04): 1303
DOI: 10.1055/s-0038-1657738

Letter to the Editor

Schattauer GmbH Stuttgart

Mohammed S Enayat

¹The Department of Haematology, The Birmingham Children’s Hospital NHS Trust, Ladywood, UK

,

Bimal D M Theophilus

¹The Department of Haematology, The Birmingham Children’s Hospital NHS Trust, Ladywood, UK

,

Michael D Williams

¹The Department of Haematology, The Birmingham Children’s Hospital NHS Trust, Ladywood, UK

,

Jonathan T Wilde

²University Hospital Birmingham NHS Trust, Edgbaston, Birmingham, UK

,

Frank G H Hill

¹The Department of Haematology, The Birmingham Children’s Hospital NHS Trust, Ladywood, UK

References
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2 Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of FVm deficiency in haemophilia A. Hum Mut 1995; 5: 01-22
3 Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe haemophilia A. Blood 1994; 84: 2202-2205
4 Enayat MS, Theophilus BDM, Williams MD, Hill FGH. Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family. Blood 1995; 85: 2639
5 Naylor JA, Nicholson P, Goodeve A, Hassock S, Peake I, Giannelli F. A novel DNA inversion causing severe haemophilia A. Blood 1996; 87: 3255-3261
6 Schröder W, Wehnert M, Herrmann FH. Intron 22 of factor VIE gene - A hot spot for structural aberrations causing severe haemophilia A. Blood 1996; 87: 3067-3068