A Large Deletion due to a New Mutation (Intron 13/Exon 23) in a Sporadic Case of Severe Hemophilia A

Clinical and Applied Thrombosis/Hemostasis

Volumn 10, Issue 1, 2004, Pages 61-64

  Lombardi, Anna Maria ^a,c   Cabrio, Laura ^a   Zanon, Ezio ^a   Sartori, Maria Teresa ^a   Navaglia, Filippo ^b   Plebani, Mario ^b   Girolami, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Hemophilia A; Large deletion; Long PCR

Indexed keywords

BLOOD CLOTTING FACTOR 8; THROMBOPLASTIN;

ADULT; ARTICLE; BLOOD CLOTTING; CAPILLARY RESISTANCE; CASE REPORT; CONTROLLED STUDY; EXON; FALLING; GENE AMPLIFICATION; GENE DELETION; HEMATOMA; HEMOPHILIA A; HUMAN; HUMAN CELL; INTRON; MALE; MOLECULAR BIOLOGY; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 2142829355     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/107602960401000110     Document Type: Article

References (17)

1. Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984;312:342.
2. Lakich D, Kazazian HHJ, Antonarakis SE. Inversions distrupting the factor VIII gene are a common cause of severe hemophilia A. Nat Genet 1993;5:236.
3. Youssoufian H, Antonarakis SE, Phillips DG, Aronis S, Tsiftis G, Kazazian HHJ. Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci USA 1987;84:3772.
4. Girolami A, Molaro G, Lazzarin M, Scarpa R, Brunetti A. A new congenital haemorragic condition due to the presence of an abnormal factor X (Factor X. Friuli): Study of a large kindred. Br J Haematol 1970;19:179.
5. Casonato A, Sartori MT, Pontara E, Zucchetto S, Girolami A. Impaired release of tissue plasminogen activator (t-PA) following DDAVP infusion in von Willebrand disease with low platelet and von Willebrand factor content. Blood Coag Fibrinol 1992;3:149.
6. Casonato A, Fabris F, Vicariotto M, Giralami A. The evaluation of factor VIII antigen by means of a simple slide test. Am J Clin Pathol 1985;84:107.
7. Liu Q, Nazari G, Sommer S. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998;92:1458.
8. Oldenburg J, Ivaskevicius V, Rost S, Fregin A, White K, Holinski-Feder E, Muller C, Weber BHF. Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods 2001;47:39.
9. Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a Bcl1 polymorphism in the factor VIII gene. Nature 1985:314.
10. Lalloz MR, Schwaab R, McVey JH, Michaelides K, Tuddenham EGD. Hemophilia A diagnosis by simultaneus analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Hematol 1994;86:804.
11. Millar DS, Steinbreker RA, Wieland K, et al. The molecular genetic analysis of haemophilia A: Characterization of six partial deletions in the factor VIII gene. Hum Genet 1990;86:219.
12. Cutler JA, Mitchell MJ, Smith MP, Savidge GF. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mutation 2002;19:274.
13. Salviato R, Belvini D, Are A, Radossi P, Tagariello G. Large FVIII gene deletion confers very high risk of inhibitor development in three related severe haemophiliacs. Haemophilia 2002;8:17.
14. Habart D, Kalabova D, Novotny M, Vorlova Z. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions. J Thromb Haemost 2003;1:773.
15. Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation to factor VIII genotypes. Haemophilia 2002;8:(Suppl 2)23.
16. Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: Identification of 14 novel mutations. Thromb Haemost 2001;85:580.
17. Kaufman RI, Antonrakis SE, Fay PJ. Factor VIII and hemophilia A. In Colman RW, Hirsh J, Mordder VJ, et al (eds): Thrombosis and Hemostasis, Philadelphia: Lippincott, Williams and Wilkins, 2001.