Table 2

Genetic disorders that are associated with increased iron storage (secondary hemochromatosis)

DiseaseCause of Iron Loading
AtransferrinemiaMutations in transferrin
AceruloplasminemiaMutations in ceruloplasmin
X-Linked hereditary sideroblastic anemiaMutations inALAS2 2-a ineffective erythropoiesis
Thalassemia majorIneffective erythropoiesis
Congenital dyserythropoietic anemiaIneffective erythropoiesis
Pyruvate kinase deficiency and other red cell enzyme deficienciesTransfusions and ineffective erythropoiesis
  • 2-a  Erythroid 5-aminolevulinate synthase.