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Concomitant large deletion and de novo duplication of factor VIII gene in an Indian patient with severe Hemophilia A

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References

  1. Shetty S, Bhave M, Ghosh K (2011) Challenges of multiple mutations in individual patients with haemophilia. Eur J Haematol 86(3):185–190. https://doi.org/10.1111/j.1600-0609.2010.01564.x

    Article  CAS  PubMed  Google Scholar 

  2. Johnsen JM, Fletcher SN, Huston H et al (2017) Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Adv 1(13):824–834

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Kentsis A, Anewalt R, Ganguly A, Allen JB, Neufeld EJ (2009) Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele. Haemophilia 15(4):971–972. https://doi.org/10.1111/j.1365-2516.2009.02035.x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Zarrilli F, Coppola A, Schiavulli M et al (2018) Haemophilia A: the consequences of de novo mutations. Two case reports Blood Transfus 16(4):392–393. https://doi.org/10.2450/2017.0292-16

    Article  PubMed  Google Scholar 

  5. Gouw SC, van den Berg HM, Oldenburg J et al (2012) F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood 119(12):2922–2934. https://doi.org/10.1182/blood-2011-09-379453

    Article  CAS  PubMed  Google Scholar 

  6. Simioni P, Cagnin S, Sartorello F et al (2021) Partial F8 gene duplication (factor VIII Padua) associated with high factor VIII levels and familial thrombophilia. Blood 137(17):2383–2393. https://doi.org/10.1182/blood.2020008168

    Article  CAS  PubMed  Google Scholar 

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Funding

Funds were provided by the Department of Biotechnology (DBT), Ministry of Science and Technology, Government of India via grant number BT/PR24109/MED/12/814/2018 to Dr. Reena Das.

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Authors and Affiliations

  1. Departments of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Debadrita Ray, Ritika Sharma, Narender Kumar, Jasmina Ahluwalia & Reena Das

  2. Pediatric Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Richa Jain

Authors
  1. Debadrita Ray
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  2. Ritika Sharma
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  3. Richa Jain
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  4. Narender Kumar
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  5. Jasmina Ahluwalia
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  6. Reena Das
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Contributions

DR, RS wrote the main manuscript; RJ clinical data evaluation; NK designed the manuscript and critical review; JA, RD critical review.

Corresponding author

Correspondence to Narender Kumar.

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The authors declare no competing interests.

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Ray, D., Sharma, R., Jain, R. et al. Concomitant large deletion and de novo duplication of factor VIII gene in an Indian patient with severe Hemophilia A. Ann Hematol 103, 1789–1790 (2024). https://doi.org/10.1007/s00277-024-05661-8

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  • DOI: https://doi.org/10.1007/s00277-024-05661-8

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