Inherited Iron Disorders (IRIDA)

Co se diagnózou změní

Knowing the cause avoids repeated investigations for blood loss and points to intravenous iron rather than tablets.

Analyzované geny

Známé také jako

anemia, hypochromic microcytic, with defect in iron metabolism; IRIDA; iron-refractory iron deficiency anaemia; iron-refractory iron deficiency anemia; pseudo-iron-deficiency Anaemia

Co se diagnózou změní

Starting iron chelation early may prevent or slow damage to the brain and other organs.

Analyzované geny

Známé také jako

cerebellar ataxia; familial apoceruloplasmin deficiency; hereditary ceruloplasmin deficiency; hypoceruloplasminemia, hereditary; systemic hemosiderosis due to aceruloplasminemia

Co se diagnózou změní

Plasma or transferrin infusions can correct the anaemia, and iron overload can be monitored.

Analyzované geny

Známé také jako

congenital atransferrinemia; congenital hypotransferrinemia; familial hypotransferrinemia; hereditary atransferrinemia

Analyzované geny

Známé také jako

AHMIO1; anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1; hypochromic microcytic anaemia with iron overload; hypochromic microcytic anemia with iron overload; microcytic anaemia and hepatic iron overload; microcytic anemia and hepatic iron overload