X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia and involves a defect in ALAS2,[8] which is involved in the first step of heme synthesis.
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Sideroblastic anemia - Wikipedia blood cell. Congenital forms often present with normocytic or microcytic anemia while acquired forms of sideroblastic anemia are often normocytic or macrocytic. Congenital sideroblastic anemia <span>X-linked sideroblastic anemia: This is the most common congenital cause of sideroblastic anemia and involves a defect in ALAS2,[8] which is involved in the first step of heme synthesis. Although X-linked, approximately one third of patients are women due to skewed X-inactivation (lyonizations). Autosomal recessive sideroblastic anemia involves mutations in the SLC25A38