Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Thromb Haemost 2010; 103(05): 1106-1108
DOI: 10.1160/TH09-01-0017
DOI: 10.1160/TH09-01-0017
Letters to the Editor
Occurence of haemophilia A and B in a Chinese family with mosaicism of the F9 gene mutation in the HB index‘s maternal grandfather
Further Information
Publication History
Received:
12 January 2009
Accepted after major revision:
03 January 2010
Publication Date:
22 November 2017 (online)
* These authors contributed equally.
-
References
- 1 Keeney S, Mitchell M, Goodeve A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 387-397.
- 2 Shetty S, Ghosh K, Parekh S. et al. Combined factor VIII and IX deficiency in a family. Clin Lab. Haem 2001; 23: 201-204.
- 3 Wang XF, Liu YF, Li ZG. et al. Carrier detection and prenatal diagnosis for hemophilia A. Chin J Hematol 2001; 22: 117-120.
- 4 Bagnall RD, Waseem N, Green PM. et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-174.
- 5 Dai J, Liu XF, Wang XF. et al. Factor IX gene analysis in 19 unrelated patients with haemophilia B: description of 5 new mutation. Chin J Lab Med 2005; 28: 1-3.
- 6 Mitchell M, Keeney S, Goodeve A. The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors’organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 398-404.
- 7 Bicocchi MP, Pasino M, Rosano C. et al. Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B. Haemophilia 2006; 12: 263-270.
- 8 Lillicrap D. The molecular basis of haemophilia B. Haemophilia 1998; 04: 350-357.
- 9 Liu XF, Wang XF, Fan QS. et al. Gene diagnosis of hemophilia B by multiple STR analysis. Chin J Hematol 2002; 23: 147-150.
- 10 Rolf CR, Ljung R, Elsy S. Origin of mutation in sporadic cases of haemophilia. Br J Haematol 1999; 106: 870-874.
- 11 Leuer M, Oldenburg J, Lavergne JM. et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.
- 12 Ketterling RP, Vielhaber E, Li X. et al. Germline origins in the human F9 gene: frequent G:C-A:T mosaicism and increased mutations with advanced maternal age. Hum Genet 1999; 105: 629-640.
- 13 Oldenburg J, Rost S, El-Maarri O. et al. De novo factor VIII intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 2000; 96: 2905-2906.