Sideroblastic anemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
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.
Historical Perspective
- 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 Pd. (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.
- Cotter in 1994 identified mutation in the ALAS2 gene.
- In 2001 Levi discovered that iron accumulates in the mitochondria.[1]
References
- ↑ Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS (2006). "X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns". Blood Cells Mol. Dis. 37 (1): 40–5. doi:10.1016/j.bcmd.2006.04.003. PMID 16735131.