Portable sickle disease test could aid early detection in children


A fast, low-cost portable test for sickle cell disease (SCD) that was developed with funding from NHLBI could help detect the condition in children living in areas with low resources and get them early treatment that could save lives.

About 20 million people globally have SCD, including 100,000 in the United States. The disease, which is due to an abnormal protein in red blood cells, can be cured with a blood and bone marrow transplant, but only a small number of people are able to have the transplant. Early diagnosis and medical care can prevent complications, such as pain and organ damage.

Worldwide, more than 500 children with SCD die every day due to lack of access to adequate medical care. The hope is that the new testing platform could prevent that by providing an inexpensive diagnostic that could help them get treatment.

The platform, called Gazelle, consists of microchip electrophoresis technology, which is a miniaturized version of the traditional blood test, that is combined with artificial intelligence. Gazelle was given regulatory approval in India and Ghana in June.

The testing technology used in Gazelle was shown to be accurate for detecting sickle cell disease in a study that was published in March in the Analyst journal. The research involved 768 people in the United States, Central India, sub-Saharan Africa, and Southeast Asia.

Another newborn screening technology is also being developed with NHLBI funding through the Small Business Innovation Research (SBIR) program. Baebies, a North Carolina company, is using lab-on-a-chip blood test technology to create tests that quickly and accurately detect potentially dozens of diseases in newborns, including rare disorders.