Genomics of bleeding disorders

Haemophilia

Volumn 20, Issue S4, 2014, Pages 50-53

  Goodeve, A C ^a   Pavlova, A ^b   Oldenburg, J ^b  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Bleeding disorders; Genetics; Genomics; Haemophilia; Inhibitor development

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; INTERLEUKIN 10; NEUTRALIZING ANTIBODY; TUMOR NECROSIS FACTOR ALPHA; VON WILLEBRAND FACTOR; ALLOANTIBODY; BLOOD CLOTTING FACTOR;

3' UNTRANSLATED REGION; ANTIBODY PRODUCTION; ANTIGEN PRESENTING CELL; BLEEDING DISORDER; COMPARATIVE GENOMIC HYBRIDIZATION; DINUCLEOTIDE REPEAT; DISEASE SEVERITY; DNA SEQUENCE; ETHNICITY; EXON; F8 GENE; F9 GENE; FAMILY HISTORY; GENE; GENE DOSAGE; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GENOMICS; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HELPER CELL; HEMOPHILIA A; HEMOPHILIA B; HUMAN; IMMUNE RESPONSE; IMMUNOGENICITY; INDEL MUTATION; INTRON; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEXT GENERATION DNA SEQUENCING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR GENE; ANIMAL; BLOOD COAGULATION DISORDERS; GENETIC SCREENING; GENETICS; IMMUNOLOGY; PROGNOSIS;

ANIMALS; BLOOD COAGULATION DISORDERS; BLOOD COAGULATION FACTORS; GENETIC TESTING; GENOMICS; HUMANS; ISOANTIBODIES; PROGNOSIS;

EID: 84899502569     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12424     Document Type: Review

References (31)

1. Nichols WC, Seligsohn U, Zivelin A et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
2. Zhang B, McGee B, Yamaoka JS et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006; 107: 1903-7.
3. Rost S, Fregin A, Ivaskevicius V et al. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004; 427: 537-41.
4. Santagostino E, Mancuso ME, Tripodi A et al. Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile. J Thromb Haemost 2010; 8: 737-43.
5. Carcao MD, van den Berg HM, Ljung R, Mancuso ME; PedNet and the Rodin Study Group. Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A. Blood 2013; 121: 3946-52.
6. Rafati M, Ravanbod S, Hoseini A et al. Identification of ten large deletions and one duplication in the F8 gene of eleven unrelated Iranian severe haemophilia A families using the multiplex ligation-dependent probe amplification technique. Haemophilia 2011; 17: 705-7.
7. Yadegari H, Driesen J, Hass M, Budde U, Pavlova A, Oldenburg J. Large deletions identified in patients with von Willebrand disease using multiple ligation-dependent probe amplification. J Thromb Haemost 2011; 9: 1083-6.
8. Bellissimo DB, Chin E, Hegde M, Christopherson PA, Haberichter SL, Montgomery RR. Detection of VWF copy number variations by microarray analysis in von Willebrand disease type 3 index cases. Blood (ASH Annual Meeting Abstracts) 2011; 118: 380.
9. Askree SH, Chen ELH, Bean LH, Coffee B, Tanner T, Hedge M. Detection limit of intragenic deletions with targeted array comparative genomic hybridization. BMC Genet 2013; 14: 116.
10. Watson SP, Lowe GC, Lordkipanidze M, Morgan NV; GAPP consortium. Genotyping and phenotyping of platelet function disorders. J Thromb Haemost 2013; 11(Suppl. 1): 351-63.
11. Corrales I, Catarino S, Ayats J et al. High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods. Haematologica 2012; 97: 1003-7.
12. Josephson NC, Martin B, Nakaya S et al. A next generation sequencing approach for genotyping patients with hemophilia. J Thromb Haemost 2013; 11: 85-289.
13. Pezeshkpoor B, Zimmer N, Marquardt N et al. Deep intronic 'mutations' cause hemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA. J Thromb Haemost 2013; 11: 1679-87.
14. Dotta L, Parolini S, Prandini A et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis 2013; 8: 168.
15. Gouw SC, van den Berg HM, Oldenburg J, et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood 2012; 22: 2922-34.
16. Schwaab R, Brackmann HH, Meyer C et al. Haemophilia A: mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
17. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factor VIII and IX. Haemophilia 2006; 12(Suppl. 6): 15-22.
18. Oldenburg J, Schroder J, Schmitt C, Brack-mann HH, Schwaab R. Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype. Thromb Haemost 1998; 79: 452-3.
19. Eckhardt CL, van Velzen AS, Peters M et al. Factor VIII gene (F8) mutation and risk of inhibitor development in nonsevere hemophilia A. Blood 2013; 122: 1954-62.
20. Schwaab R, Pavlova A, Albert T, Caspers M, Oldenburg J. Significance of F8 missense mutations with respect to inhibitor formation. Thromb Haemost 2013; 109: 464-70.
21. van Helden PM, Kaijen PH, Fijnvandraat K, van den Berg M, Voorberg J. Factor VIII-specific memory B cells in patients with hemophilia A. J Thromb Haemost 2007; 5: 2306-8.
22. Reipert BM, Allacher P, Hausl C et al. Modulation of factor VIII-specific memory B cells. Haemophilia 2010; 16: 25-30.
23. Hay CR, Ollier W, Pepper L et al. HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A. UKHCDO Inhibitor Working Party. Thromb Haemost 1997; 77: 234-7.
24. Oldenburg J, Picard JK, Schwaab R, Brackmann HH, Tuddenham EG, Simpson E. HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII. Thromb Haemost 1997; 77: 238-42.
25. Hay CR. The epidemiology of factor VIII inhibitors. Haemophilia 2006; 12(Suppl. 6): 23-8.
26. Pavlova A, Delev D, Lacroix-Desmazes S et al. Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-alpha and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A. J Thromb Haemost 2009; 7: 2006-15.
27. Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert AK and MIBS Study Group. Polymorphisms in the IL10 but not in the IL1 beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. Blood 2006; 107: 3167-72.
28. Astermark J, Oldenburg J, Carlson J et al. Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. Blood 2006; 108: 3739-45.
29. Astermark J, Donfield SM, Gomperts ED et al. Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. The polygenic nature of inhibitors in hemophilia A: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. Blood 2013; 121: 1446-54.
30. Viel KR, Ameri A, Abshire TC et al. Inhibitors of factor VIII in black patients with hemophilia. N Engl J Med 2009; 360: 1618-27.
31. Kurnik K, Bidlingmaier C, Engl W, Chehadeh H, Reipert B, Auerswald G. New early prophylaxis regimen that avoids immunological danger signals can reduce FVIII inhibitor development. Haemophilia 2010; 16: 256-62.