Lecture 5: Hemophilia and Hereditary Factor Deficiencies
Catherine McGuinn MD
Presentation Date:
October 9, 2025
> Hemophilia, while not the most common bleeding disorder, is widely known among the public.
> It is also known as the "Royal Disease" due to its presence in the European royal families of the late 19th and early 20th Century.
> The earliest records of hemophilia date to the Talmud, a Jewish religious text from over 2000 years ago.
> New generations of treatment, now including gene therapy have made this a very exciting time for patients and their caregivers.
Catherine McGuinn, MD
Director of the Hemophilia (Bleeding Disorders) program
Weill Cornell Medicine
cam9061@med.cornell.edu
DISCLOSURES
Research support: (Last 24 Months):
(Biogen/Sanofi, Roche/Genentech, Spark, Pfizer, Takeda/Shire)
Medical Advisory Board (Last 24 months):
(Genentech, CSL, Octapharma)
Will include discussion of off-label use of medications
Learning Objectives
1. Accurately recognize the inheritance pattern, clinical presentation and laboratory evaluation for Hemophilia
2. Understand the risks and benefits of clotting factor administration for the treatment
3. Describe 3 approaches to improve the prevention of bleeding events in patients with Hemophilia
> Hemarthrosis (joint bleed) is a classic manifestation of severe hemophilia A or B.
> Hemarthrosis can lead to ankylosis (pathological fusion of a joint), a debilitating complication.
> Image from: Nicholson HJ et al. Appl Sci (Basel). 2024 Jul 2;14(14):6292. doi: 10.3390/app14146292. Epub 2024 Jul 19. PMID: 39619606; PMCID: PMC11608117.