Sickle cell anemia
Education on Sickle cell anemia 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 Sickle cell anemia 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 Sickle cell anemia?
Sickle cell anemia 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
Sickle cell anemia is a condition in which hemoglobin molecules become misshapen and can no longer fit through narrow blood vessels. Sickled red blood cells die after approximately 10 to 20 days rather than the typical 120-day life span of normal red blood cells. Because the red blood cells cannot be replaced quickly enough, patients with sickle cell anemia are chronically short of red blood cells. In sickle cell anemia, neutrophil extracellular traps ("NETs") catch misshapen sickle-shaped red blood cells, blocking blood vessels and causing pain. Painful swelling of hands and feet can also occur, and such swelling can be alleviated through the anti-inflammatory action AAT, a powerful inhibitor of neutrophil elastase ("NE"). A link between NETs and several conditions, including sickle cell anemia and other circulatory and coagulation issues, was shown by Brinkmann and Zychlinsky. Blockage of blood vessels leading to the eyes and retinas can cause blindness in patients suffering from sickle cell anemia. Inhibition of NE using AAT can maintain blood flow to the patient's eyes, preventing blindness. Organ damage associated with sickle cell anemia can be lessened and eliminated for som…
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 Sickle cell anemia, 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 Sickle cell anemia, consider learning about Alpha-1 Antitrypsin Deficiency and discussing AAT testing with your healthcare team. The Mark Egly Foundation offers education and community support: