The First Point-of-Care Diagnostic for Hemophilia & an Emerging Class of Anti-Coagulants


Every bleed matters

In 1803, a physician from Philadelphia wrote about “a hemorrhagic disposition existing in certain families” that was passed on in families (hereditary) that mostly affected males. Interestingly, it was not until 1828 that the word “hemophilia” first appeared in a description of a bleeding disorder at the University of Zurich.

In 1944, a doctor from Argentina described two patients with hemophilia and discovered that the blood from one could correct the clotting defect in the blood of the other. This led to the eventual understanding that hemophilia A and hemophilia B were two separate disorders.

Hemophilia has often been called the "Royal Disease." Queen Victoria of England (1837–1901) was a carrier of the disorder who passed the disorder on to several royal families by arranged marriages, including the Spanish, Prussian and Russian royal families. The Russian Tzar Nikolai’s focus on treatment for his affected son, Prince Alexei, was thought to be a factor in the fall of the Russian monarchy. Based upon recent genetic analysis of the Russian royal family, it was determined that the “royal disease” passed on by Queen Victoria was the less common hemophilia B.

The incidence of hemophilia A is approximately 1 case per 5000 male individuals born. While the majority has a family history, about one third of affected individuals represent a spontaneous or new change to the factor VIII gene resulting in hemophilia.

The incidence of hemophilia B is approximately 1 case per 25,000 male individuals born. While most have a family history, about one in five affected individuals represent a spontaneous or new change to the factor IX gene resulting in hemophilia.

Congenital hemophilia is an inherited disorder affecting approximately 25,000 people in the US and an estimated 400,000 people globally according to the Centers for Disease Control and Prevention (CDC).

There is no viable point of care diagnostic test available to hemophilia patients today.