X-linked sideroblastic anemia

The x-linked sideroblastic anemia describes a microcytic hypochromic condition whose severity may vary greatly. A part of the cases are treatable with folic acid and pyridoxine. Characteristic of the disease is an iron-overloading in the mitochondria of the erythroblasts associated with the anemia, as well as the greatly increased number of ring dermoblasts in the bone marrow. The increased spread of erythrocyte formation and development leads to an above average intake of iron from the food. The body is in danger of an iron overload.

The consequences of this iron overload are mainly cirrhosis of the liver, cardiomyopathy and diabetes mellitus.

The disease can be manifested in any age group.

The inheritance is X-linked recessive, with the cause of the disease underlying both inherited and new mutations in the ALAS2 gene at the Xp11.21 locus. The gene encodes the delta-aminolaevulinic acid synthase of the erythrocyte series. Although female patients have no clinical symptoms, half of the female patients have macrocytosis of the erythrocytes.