Genetic Testing for Disorders of Iron Homeostasis

摘要: Iron homeostasis in health is maintained by the controlled absorption of iron from small intestine that equals daily losses and meets requirements for erythropoiesis. The susceptibility to develop overload increased persons whom dietary increased. Deleterious mutations genes encode proteins control or mediate absorption, transport, storage cause diverse primary syndromes, e.g., HFE hemochromatosis. Similarly, heritable acquired forms anemia characterized ineffective erythropoiesis production growth/differentiation factor 15 enhance absence other chronic erythrocyte transfusion, X-linked sideroblastic anemia. Mutations transferrin matripase-2 may lead iron-deficient refractory therapy. In this chapter, principal methods detect evaluate associated with disorders are reviewed, deleterious genomic DNA these tabulated.