Can this "napkin" quickly screen for classic genetic diseases?

Every year, hundreds of thousands of children with sickle cell disease worldwide are born, a hereditary disease that affects hemoglobin molecules in the blood. Most children who are deficient will die before the age of 5 without timely diagnosis and care. In fact, accurate diagnosis and effective treatment of sickle cell disease. Scientists and doctors have known for many years that in developed areas, many children with sickle cell disease can grow up smoothly through good medical environmental protection. The successful screening of newborns is indispensable.

The best way to diagnose must be fast and simple

Traditional laboratory diagnostic methods, although sensitive and accurate, also have great limitations, high cost, complexity, and slow speed, and also have certain requirements for the professional nature of the site and equipment as well as personnel. In order to enable good screening for newborns around the world, scientists are working to simplify the sophisticated detection method into a simple, low-cost method that is cheap enough, easy to carry, simple to operate, and fast, even if In the case of limited resources - the lack of sound infrastructure, professional equipment, and well-trained personnel, can accurately detect sickle cell disease.

Make complicated things simple and require imagination

A lot of research inspiration comes from a few cups of coffee. Sergey Shevkoplyas one day used a napkin as a temporary coaster for his coffee cup. The coffee stains on the paper towel had a light center and dark edges. This model reminds him of the physical principles behind the article he has seen. Why, during the drying of the coffee stains, the small particles that make the coffee appear brown will move outwards, forming the edge of the stain. He associates with the detection of sickle cell disease. Can I use the principle of paper and coffee to detect sickle cell disease?

Soon he got the model. He used chromatography paper, a porous cellulosic material similar to napkins. When blood is used for testing, the blood is first added to the soluble buffer, and after mixing for 10 minutes, a drop is dropped into the center of the analysis paper. Studies have found that insoluble agglomerates of polymeric sickle hemoglobin are entangled with paper fibers, while hemoglobin and other soluble components are drawn outward through the voids of the paper.

Typical adult blood (AA), sickle cell trait (AS) and sickle cell disease (SS) blood test results. Image source: PULSE

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