MMACHC and megaloblastic anemia: This discovery is supported by previous studies demonstrating the prevalence of megaloblastic anemia in patients with the cblC type, which is associated with hyperhomocysteine.47, 48 In addition, variant hotspots c.80A > G and c.482G > A in the MMACHC gene, mainly found in patients with late-onset and mild phenotypes, were identified to be strongly related to a better prognosis.49, 50