X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician - hematologist. He considered possible X-linkage in a family in which 19 males in 5 generations were affected, with transmission through unaffected females. In 1946 Rundles and Falls reported 2 families. Slightly enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. Pyridoxine responsiveness was observed in at least 2 affected members of Rundles and Falls' family In 1961 Byrd and Cooper named the disorder as hereditary iron -loading anemia. In 1983 Peto et al concentrated on iron overload in mild sideroblastic anemia after the death from cardiac siderosis of a middle-aged woman with a very mild form of familial sideroblastic anemia. Cotter et al. (1995) described a previously healthy 81-year-old woman with microcytic sideroblastic anemia. The diagnosis of the X-linked congenital sideroblastic anemia resulted in successful treatment with pyridoxine. She was diagnosed to be heterozygous for a point mutation of the ALAS2 gene. Aivado (2006) reported a family in which a mother and her 2 daughters had sideroblastic anemia that was unresponsive to pyridoxine. It was confirmed by genetic analysis. The disorder was variable in severity and X-chromosome inactivation studies were done. In 1971 Hines found decreased levels of pyridoxal phosphokinase in red cells and livers of patients with pyridoxine -dependent refractory sideroblastic anemia. In 1973A Oki found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia. In 2001 Levi discovered that iron accumulates in the mitochondria of red cell precursors.
Can you explain what sideroblastic anemia is?
<s>[INST] Answer the question truthfully, you are a medical professional. This is the question: Can you explain what sideroblastic anemia is? [/INST] \n X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician - hematologist. He considered possible X-linkage in a family in which 19 males in 5 generations were affected, with transmission through unaffected females. In 1946 Rundles and Falls reported 2 families. Slightly enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. Pyridoxine responsiveness was observed in at least 2 affected members of Rundles and Falls' family In 1961 Byrd and Cooper named the disorder as hereditary iron -loading anemia. In 1983 Peto et al concentrated on iron overload in mild sideroblastic anemia after the death from cardiac siderosis of a middle-aged woman with a very mild form of familial sideroblastic anemia. Cotter et al. (1995) described a previously healthy 81-year-old woman with microcytic sideroblastic anemia. The diagnosis of the X-linked congenital sideroblastic anemia resulted in successful treatment with pyridoxine. She was diagnosed to be heterozygous for a point mutation of the ALAS2 gene. Aivado (2006) reported a family in which a mother and her 2 daughters had sideroblastic anemia that was unresponsive to pyridoxine. It was confirmed by genetic analysis. The disorder was variable in severity and X-chromosome inactivation studies were done. In 1971 Hines found decreased levels of pyridoxal phosphokinase in red cells and livers of patients with pyridoxine -dependent refractory sideroblastic anemia. In 1973A Oki found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia. In 2001 Levi discovered that iron accumulates in the mitochondria of red cell precursors.</s>