In Pakistan, 90% of thalassemia genotypes are associated with the six most commonly occurring variants of the β-globin gene including HBB:c.27_28insG(p.Ser10Valfs*14), HBB:c.92+5G>C, HBB:c.47G>A(p.Trp16*), HBB:c.9+1G>T, HBB:c.126_129delCTTT(p.Phe42Leufs*19) and NG_000007.3:g.71609_72227del6197. The gene discussed is HBB; the disease is thalassemia.