Sickle cell disease and sickle cell trait are genetic blood disorders that affect over 6 million newborns annually. Infants with two copies of mutant hemoglobin β-subunit have sickle cell disease (SCD); infants with a single copy have sickle cell trait and are carriers of SCD.
Most infants with SCD are born into low-resource settings, such as sub-Saharan Africa, where the consequences of the disease can be devastating. Without early diagnosis and subsequent treatment, 50-90% of SCD patients in sub-Saharan Africa die in early childhood. With diagnosis, mortality can be dramatically reduced by promptly initiating low-cost treatments and educational interventions, which are available even in low-resource settings.
No currently available diagnostic test can identify both SCD and sickle cell trait in environments like sub-Saharan Africa, where over 70% of the population has access to little or no health care infrastructure. All existing tests have major limitations in this health care environment. Simple, affordable tests cannot distinguish sickle cell trait from SCD. Some tests can distinguish carriers from SCD patients, but all require advanced medical infrastructure not available to infants born into low-resource settings.
DxDiscovery’s goal is to develop a point-of-care, SCD diagnostic product ideally suited for low-resource settings. Our approach will use sensitive, specific, and proprietary detection reagents to identify the normal hemoglobin protein and the sickle cell hemoglobin mutant proteins most common in sub-Saharan Africa (hemoglobin S and hemoglobin C). The product will be a sensitive and specific lateral flow (dipstick) assay that uses a single drop of blood to diagnose both SCD and sickle cell trait within minutes, at a very low cost, in sites with little or no medical infrastructure.
Infants in sub-Saharan Africa are the primary target population for this diagnostic. SCD is the most prevalent genetic disease in Africa. Depending on country, 10 to 40% of people in Africa have sickle cell trait and are thus carriers for SCD. The World Health Organization recently recommended that all African countries develop national SCD newborn screening programs. There are 30 million live births each year in Africa; each should be tested.
A small business innovation research (SBIR) proposal to the National Heart, Lung and Blood Institute is pending. This proposal would provide for an R&D budget of $430,000 over two years.