DEC 23, 2019 9:49 AM PST

Long awaited at-home test gives hemophiliacs peace of mind

WRITTEN BY: Tara Fernandez

Haemophilia is a genetically-inherited condition that severely affects an individual’s ability to stop bleeding. Blood clotting is a natural protective response, orchestrated by circulating proteins known as clotting factors.

In the event of an internal or external bleed, a cascade of hematological events is quickly triggered to minimize damage. Firstly, blood vessels shrink to constrict blood flow. Next, blood cells called platelets are activated and interact with other blood proteins, such as fibrin, to create a mesh dam-like structure. The video below highlights the complex biology of the clotting process.


Managing hemophilia involves a delicate balance of measuring a patient’s coagulation status, or the ability of their blood to form a clot, and then administering an appropriate therapeutic dose of a clotting factor. If the coagulation status is too low, the patient risks massive internal bleeding. Too high, and blood clots can spontaneously form in veins and arteries, spiking the risk of a heart attack or stroke.

Japanese pharmaceutical giant, Takeda, in partnership with technology developed by Dutch biotech, Enzyre, is creating the first diagnostic test for hemophilia patients -- allowing them to measure their coagulation status accurately from the comfort of their own homes.

This development is a long time coming for the 400,000 people living with hemophilia around the world, who mostly manage their condition on their own, only seeking medical care when urgently required. An at-home diagnostic tool can provide much greater control over managing their health effectively.

The device, known as the ENZYPAD (pictured below), painlessly takes a sample of blood from the patient and runs the test on a microfluidic cartridge. The test results are instantly available to patients, caregivers and their physicians via a mobile app. With this life-changing technology, patients can confidently lead active lifestyles without worrying about their risk of bleeding or having to perform traditional blood tests at a hospital.

Inspired by creating solutions to improve hemophiliacs’ quality of life, Dirk Pollet, CEO of Enzyre said, “With our proprietary technology, we aim to provide hemophilia patients and their caregivers with peace of mind by allowing them to monitor coagulation status at home. Ultimately we'd like to empower these patients to live a normal life.”

Other pharmaceutical companies, such as Pfizer and Sangamo Therapeutics are also developing clinical strategies to support hemophiliacs, by taking a gene therapy approach. They recently disclosed some promising results from a gene therapy clinical trial, in which the gene for Factor VIII (the missing link for patients with Hemophilia A) was delivered to the liver of patients. This stimulates the liver to act as a factory for Factor VIII, bringing circulating levels of the clotting factor up towards the normal range and protecting against bleeding.

With improved point-of-care diagnostics and next-generation therapies for hemophilia just around the corner, families living with hemophilia can expect much more peace of mind.

Sources: Fierce Biotech, NHS, Hemophilia News Today.


About the Author
  • Tara Fernandez has a PhD in Cell Biology and has spent over a decade uncovering the molecular basis of diseases ranging from skin cancer to obesity and diabetes. She currently works on developing and marketing disruptive new technologies in the biotechnology industry. Her areas of interest include innovation in molecular diagnostics, cell therapies, and immunology. She actively participates in various science communication and public engagement initiatives to promote STEM in the community.
You May Also Like
AUG 08, 2019
AUG 08, 2019
The Best Way to Test Blood Pressure and Find Heart Disease
Heart disease causes hundreds of thousands of deaths annually -- can a new study on blood pressure tests guide doctors toward earlier diagnosis? About one ...
SEP 15, 2019
SEP 15, 2019
New Observations of a Cancer Transcriptase
New research shows a transcriptase that helps time cell death varies in expression, and is unusually localized, in cancer cells.  The transcriptase, T...
OCT 07, 2019
Genetics & Genomics
OCT 07, 2019
Risk Factors for Gout Revealed by Genome-Wide Association Study
Gout is a common type of arthritis, and causes severe and sudden pain, redness and swelling in the joints....
NOV 01, 2019
Chemistry & Physics
NOV 01, 2019
Cancer Therapy Agents Inspired by Solar Technology
In a recent study, a group of biomedical researchers at Michigan State University developed a new platform for tweaking light-activated dyes that can enable diagnostic imaging, image-guided s...
DEC 11, 2019
Health & Medicine
DEC 11, 2019
Can optical illusions help diagnose autism?
At first glance what do you see -- a young woman? Or perhaps a smooth jazz artist? This classic optical illusion occurs due to a phenomenon known as binocu...
JAN 21, 2020
Clinical & Molecular DX
JAN 21, 2020
Brain scans of teens predict their risk of binge drinking
We’ve seen teenage binge drinking widely represented in popular culture. There is, however, a dark side to what many consider harmless fun. Mounting...
Loading Comments...