Frequency of intron 1 and 22 inversions of factor VIII gene in Mexican patients with severe hemophilia A

American Journal of Hematology

Volumn 82, Issue 4, 2007, Pages 283-287

  Mantilla Capacho, Johanna Milena ^a,b   Beltrán Miranda, Claudia Patricia ^a,b   Luna Záizar, Hilda ^b   Aguilar López, Lilia ^c   Esparza Flores, María Amparo ^d   López Guido, Beatriz ^d   Troyo Sanromán, Rogelio ^b   Jaloma Cruz, Ana Rebeca ^a  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b UNIVERSITY OF GUADALAJARA   (Mexico)

^c HOSPITAL DE ESPECIALIDADES   (Mexico)

^d HOSPITAL DE PEDIATRÍA   (Mexico)

Author keywords

Anti FVIII antibodies; Frequencies in Mexican population; Intron 1 intron 22 inversions; Population frequencies of inversions; Severe hemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 INHIBITOR;

ARTICLE; COMPARATIVE STUDY; GENE MUTATION; HAPLOTYPE; HEMOPHILIA A; HUMAN; INTRON; MAJOR CLINICAL STUDY; MEXICO; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PRIORITY JOURNAL; RISK FACTOR; TELOMERE;

COHORT STUDIES; CROSS-SECTIONAL STUDIES; FACTOR VIII; GENE FREQUENCY; HEMOPHILIA A; HUMANS; INTRONS; INVERSION, CHROMOSOME; ISOANTIBODIES; MEXICO; ODDS RATIO;

EID: 34147141408     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.20865     Document Type: Article

References (21)

1. Kazazian HH Jr. Tuddenham EGD, Antonarakis SE. Haemophilia A and parahaemophilia: Deficiencies of coagulation factors VIII and V. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill; 2001. pp 3241-3256.
2. Antonarakis SE, Rossiter JP, Young M, et al. Factor gene inversions in severe hemophilia A: Results of an international consortium study. Blood 1995;86:2206-2212.
3. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002;99:168-174.
4. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are common cause of severe haemophilia A. Nat Genet 1993;5:236-241.
5. Oldenburg J, El-Maarri O, Schwaab R. Inhibitor development in correlation to factor VIII genotypes. Haemophilia 2002;8:23-29.
6. Saint-Remy J-MR, Lacroix-Desmazes S, Oldenburg J. Inhibitors in haemophilia: Pathophysiology. Haemophilia 2004;10:146-151.
7. Goodeve AC, Peake IR. The molecular basis of hemophilia A: Genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003;29:23-30.
8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1998;16:1215.
9. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hot spot of mutation in hemophilia A. Blood 1998;92:1458-1459.
10. Bowen D, Keeney S. Unleashing the long-distance PCR for detection of the intron 22 inversion of the factor VIII gene in severe haemophilia A. Thromb Haemost 2003;89:201-202.
11. Andrikovics H, Klein I, Bors A, et al. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003;88:778-784.
12. Verbruggen B, Novakova I, Wessels H, et al. The Nijmegen modification of the Bethesda assay for factor FVIII:C inhibitors: Improved specificity and reliability. Thromb Haemost 1995;73:247-251.
13. De Brasi C, Candela M, Cermelj M, et al. Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A. Haemophilia 2000;6:21-22.
14. Rossetti LC, Candela M, Perez Bianco R, et al. Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature. Blood Coagul Fibrinolysis 2004;15:569-572.
15. Ahmed R, Kannan M, Choudhry VP, Saxena R. Mutation reports: Intron 1 and 22 inversions in Indian haemophilics. Ann Hematol 2003;82:546-547.
16. Acquila M, Pasino M, Lanza T, et al. Frequency of factor VIII intron 1 inversion in a cohort of severe haemophilia A Italian patients. Haematologica 2003;88:ELT17.
17. Tizzano EF, Domenech M, Altisent C, Tussel J, Baiget M. Inversions in the factor VIII gene in Spanish hemophilia A patients (letter). Blood 1994;83:3826.
18. Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A (letter to the editor). Haematologica 2003;88:118-120.
19. Oldenburg J, Ananyeva MN, Saenko EL. Molecular basis of haemophilia A. Haemophilia 2004;10:133-139.
20. Kreuz W, Escuriola-Ettingshausen C, Zyschka A, et al. Inhibitor development in previously untreated patients with hemophilia A: A prospective long-term follow-up comparing plasma-derived and recombinant products. Semin Thromb Hemost 2002;28:285-290.
21. Astermark J, Oldenburg J, Escobar M, et al. The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A. Haematologica 2005;90:924-930.