Hemophilia
Education on Hemophilia and Alpha-1 Antitrypsin research from the Mark Egly Foundation, with patent claims clearly labeled as hypothesis.
Research hypothesis, not medical advice
The connections described on this page come from Mark Egly's patent filing and ongoing research. They are not established medical facts. Always work with your physician for diagnosis and treatment.
Research hypothesis. The connection between Hemophilia and Alpha-1 Antitrypsin is described in Mark Egly's 2020 patent filing. This is not established medical fact and is not medical advice. Always talk with your doctor about your own health.
What is Hemophilia?
Hemophilia is a health condition discussed in Mark Egly's research on Alpha-1 Antitrypsin. Hematologic conditions involve blood cells and bone marrow. The patent discusses marrow health and neutrophil balance.
What Mark Egly's patent discusses
Adult-onset hemophilia and acquired hemophilia are rare autoimmune disorders characterized by bleeding that occurs in patients with a personal and family history negative for hemorrhages. It occurs when the immune system produces antibodies that mistakenly attack healthy tissue, specifically specialized proteins known as clotting factors. Affected individuals experience abnormal, uncontrolled bleeding into the muscles, skin, and soft tissue during surgery or following trauma. Thrombin is a protein for clotting. Low levels of AAT increase antithrombin. Without thrombin to convert fibrinogen to fibrin, the expression of tsp1 is also reduced. Tsp1 is needed to bind with fibrin and activate platelets. Due to the link between AATD and hemophilia, in one embodiment AAT may be used to treat, control, or prevent hemophilia or improve platelet count in patients, either with or without known AATD. A diagnosis of hemophilia may prompt a medical provider to test a patient for AATD. Alternatively, a patient diagnosed with hemophilia may seek genetic testing for AATD through an independent genetic testing company such as 23andMe or geneology.com, a pharmaceutical company supplied test kit or ot…
How this may relate to Alpha-1
Mark Egly's patent proposes that when the body has too little working Alpha-1 Antitrypsin, or when neutrophils release too much neutrophil elastase, inflammation and tissue damage may worsen. For Hemophilia, the patent suggests that testing for AATD or low circulating AAT could help guide care. This is a research hypothesis, not a proven treatment path for everyone with this condition.
What you can do
If you or a family member lives with Hemophilia, consider learning about Alpha-1 Antitrypsin Deficiency and discussing AAT testing with your healthcare team. The Mark Egly Foundation offers education and community support: