Microcytic Anemias: Sideroblastic Anemia — Causes and Treatment

Microcytic Anemias: Sideroblastic Anemia — Causes and Treatment

Microcytic Anemias: Sideroblastic Anemia — Causes and Treatment

Microcytic Anemias: Sideroblastic Anemia — Causes and Treatment

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

BACKGROUND Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, ...

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis.

Microcytic anemia is the most commonly encountered anemia in general medical practice. Nutritional iron deficiency and beta thalassemia trait are the primary causes in pediatrics, whereas bleeding disorders and anemia of chronic disease are common in adulthood. Microcytic hypochromic anemia can result from a defect in globin genes, in heme synthesis, in iron availability or in iron acquisition ...