Sickle Cell Anaemia detection at Point of Care

Early diagnosis of Sickle Cell Disease (SCD) is essential to reduce the mortality rate of the disease especially in newborns. Children afflicted with monogenic diseases like Sickle cell disease show better chances of survival when detected early. In the African American population the frequency of carriers of Sickle Cell Anaemia is 1 in 400. India is reported to show the highest prevalence of SCA, where over 20 million people live with the disease. The prevalence of carriers is 1 to 40% amongst various tribal communities in India. In countries where early SCA is included in the routine newborn screening, more than 94 % of the children born with disease survive. Screening and early intervention are critical in SCA disease management.

Our CRISPR based assay for detection of Sickle Cell Anaemia mutations is being evolved to integrate into bedside or field testing suitable point of care devices. At CrisprBits we are developing a single tube NAAT (nucleic acid amplification technology) coupled CRISPR assay that would require minimal human intervention to be deployed in resource limited settings. Sickle cell anaemia is an autosomal recessive (two faulty copies of genes, one each from both parents lead to the phenotype) genetic disorder of the blood that manifests as faulty hemoglobin which in turn affects the morphology of the red blood cells and leads to anaemia. This is caused by a point mutation in the human beta globin gene (HBB), at the 6th amino acid position where a Glutamine is replaced by Valine (E6V).

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