The Epigenetic Landscape of Hemophilia

  • Swaroop Kumar Pandey
  • , Ayush Kulshreshtha
  • , Anuja Mishra

Research output: Contribution to journalReview articlepeer-review

Abstract

Hemophilia, a rare inherited bleeding illness that needs to be managed throughout one’s life to stop bleeding episodes and lessen complications. Although the genetic foundation of hemophilia is well documented, recent research has demonstrated that epigenetic pathways can influence the severity of the disease, the effectiveness of treatment, and the occurrence of complications. Advances in epigenetic research have made it possible to better understand the complexities of hemophilia and design suitable and targeted treatments. Emerging advancements as well as challenges are explored within many countries around the globe. Several epigenetic factors influence how the disorder manifests and its severity. Therapeutic interventions are the cornerstone for treating the disorder. The epigenetic regulation of the principal hemophilia genes (F8/F9) is still not fully understood. With the right treatment, preventative strategies, and better healthcare protocols, hemophilia cases in a confined area can be decreased. We explore the intricate blood clotting processes, inheritance patterns, and genetic changes that contribute to hemophilia's pathophysiology. The current understanding of epigenetics in hemophilia is examined in this review, with particular attention paid to non-coding RNAs, histone changes, and DNA methylation.

Original languageEnglish
JournalCurrent Molecular Medicine
DOIs
StateAccepted/In press - 1 Jan 2025
Externally publishedYes

Keywords

  • DNA methylation
  • Hemophilia
  • epigenetics
  • histone modifications
  • non-coding RNAs

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology

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