Home > Encyclopedia of Genetic Disorders > Anemia, sideroblastic X-linked

Definition

X-linked sideroblastic anemia is a hereditary enzyme disorder in which the body has adequate iron but is unable to incorporate it into hemoglobin.

Description

X-linked sideroblastic anemia is the hereditary form of sideroblastic anemia, also known as iron overload anemia or sideroblastosis. Another, more common type of sideroblastic anemia is called acquired sideroblastic anemia.

In sideroblastic anemia, iron enters a developing red blood cell and is not incorporated properly into the hemoglobin molecule (the cell's oxygen carrier). This causes iron to accumulate in the mitochondria and sideroblasts. The defective hemoglobin then transports oxygen poorly, resulting in decreased tissue oxygenation.

This build–up of iron gives the cell nucleus its ringed appearance,...