Although beta-thalassemia is common in India with a carrier rate as high as 5%, the distribution of pathogenic alleles is heterogeneous across subpopulations and geographic areas37. Therefore, to clinically validate HBB NIPT by molecular counting, we performed NIPT analysis for a linked, benign variant that is located within the target region of HBB exon 1 (Fig. 4A). The gene discussed is HBB; the disease is beta thalassemia.