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Are int22h-mediated deletions a common cause of hemophilia?

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References

  1. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VIII gene are common cause of severe haemophilia A. Nat Genet 5(3):236–241. doi:10.1038/ng1193-236

    Article  PubMed  CAS  Google Scholar 

  2. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F (1993) Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large inversions. Hum Mol Genet 2(11):1773–1778. doi:10.1093/hmg/2.11.1773

    Article  PubMed  CAS  Google Scholar 

  3. Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Negrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin S-W, Lin S-R, Shen M-C, Lillicrap D, Taylor SAM, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA, Ljung RCR, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D and lnaba H (1995) Factor VIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 86:2206–2212

    PubMed  CAS  Google Scholar 

  4. De Brasi CD, Candela M, Cermelj M, Slavutsky I, Larripa I, Bianco RP, De Tezanos Pinto M (2000) Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A. Haemophilia 6(1):21–22. doi:10.3324/haematol.11112

    Article  PubMed  Google Scholar 

  5. Naylor J, Buck D, Green PM, Williamson H, Bentley D, Giannelli F (1995) Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 4(7):1217–1224. doi:10.1093/hmg/4.7.1217

    Article  PubMed  CAS  Google Scholar 

  6. Ross MT et al (2005) The DNA sequence of the human X chromosome. Nature 434(7031):325–337. doi:10.1038/nature03440

    Article  PubMed  CAS  Google Scholar 

  7. Bagnall RD, Giannelli F, Green PM (2005) Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. J Thromb Haemost 3(11):2598–2599. doi:10.1111/j.1538-7836.2005.01566.x

    Article  PubMed  CAS  Google Scholar 

  8. Bagnall RD, Giannelli F, Green PM (2006) Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 4(3):591–598. doi:10.1111/j.1538-7836.2006.01840.x

    Article  PubMed  CAS  Google Scholar 

  9. Abou-Elew H, Ahemed H, Raslan H, Abdelwahab M, Hammoud MD, Arnaout H (2011) Genotyping of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. Ann Hematol 90(5):579–584. doi:10.1007/s00277-010-1115-x

    Article  PubMed  Google Scholar 

  10. Rossetti LC, Radic CP, Larripa IB, De Brasi CD (2008) Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 6(5):830–836. doi:10.1111/j.1538-7836.2008.02926.x

    Article  PubMed  CAS  Google Scholar 

  11. Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Varadi A, Tordai Attila (2003) Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 88(7):778–784. doi:10.1182/blood.V99.1.168

    PubMed  CAS  Google Scholar 

  12. Windsor S, Taylor SAM, Lillicrap D (1994) Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 84(7):2202–2205

    PubMed  CAS  Google Scholar 

  13. Poon MC, Low S, Sinclair GD (1995) Factor VIII gene rearrangement analysis and carrier determination in hemophilia A. J Lab Clin Med 125(3):402–406

    PubMed  CAS  Google Scholar 

  14. Oldenburg J, Pavlova A (2006) Genetic risk factors for inhibitor to factors VIII and IX. Haemophilia 12(Suppl 6):15–22. doi:10.1111/j.1365-2516.2006.01361.x

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

We thank the hematologists Raúl Pérez Bianco and Miguel de Tezanos Pinto and the scientists Christiane Dosne Pasqualini, Derrick Bowen, Anne Goodeve, Amy Curto, and Eduardo Tizzano for their help in the different phases of the work.

Fundings

This study was supported by grants from René Barón Foundation, Alberto J. Roemmers Foundation, Florencio Fiorini Foundation, the National Research Council, Agencia Nacional de Promoción de la Científica y Tecnológica, and the World Federation of Hemophilia.

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Authors and Affiliations

  1. Departamento de Genética, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina de Buenos Aires, Pacheco de Melo 3081, Buenos Aires, 1425, Argentina

    Miguel Martín Abelleyro, Liliana Carmen Rossetti, Claudia Pamela Radic, Irene Beatriz Larripa & Carlos Daniel De Brasi

  2. Departamento de Hemoterapia y Hemofilia, Instituto de Investigaciones Hematológicas, Academia Nacional de Medicina de Buenos Aires, Buenos Aires, Argentina

    Miguel Candela

Authors
  1. Miguel Martín Abelleyro
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  2. Liliana Carmen Rossetti
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  3. Claudia Pamela Radic
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  4. Miguel Candela
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  5. Irene Beatriz Larripa
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  6. Carlos Daniel De Brasi
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Corresponding author

Correspondence to Carlos Daniel De Brasi.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Table S1

Comprehensive data tables for sequence tagged sites (STSs), single nucleotide polymorphisms (SNPs), and properly documented genes involved in a theoretically defined Del22 mutation (int22h-mediated deletion) (PDF 99 kb)

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Abelleyro, M.M., Rossetti, L.C., Radic, C.P. et al. Are int22h-mediated deletions a common cause of hemophilia?. Ann Hematol 91, 633–636 (2012). https://doi.org/10.1007/s00277-011-1295-z

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  • DOI: https://doi.org/10.1007/s00277-011-1295-z

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