Sideroblastic anemia historical perspective: Difference between revisions
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==Overview== | ==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 et al. (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 et al found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia. In 2001 Levi et al discovered that iron accumulates in the mitochondria. | |||
==Historical Perspective== | ==Historical Perspective== | ||
=== Discovery === | === Discovery === | ||
X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician-hematologist He | * 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. | |||
Rundles and Falls | * In 1946 Rundles and Falls reported 2 families. | ||
* Slightly enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. | |||
Byrd and Cooper | * 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 | |||
Peto et al | * 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. | |||
Cotter et al. (1995) described a previously | * 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 et al. (2006) reported a family in which a mother and her 2 daughters had | * Aivado et al. (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. | |||
Hines | * 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 et al found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia. | |||
* In 2001 Levi et al discovered that iron accumulates in the mitochondria. | |||
== Outbreaks[edit | edit source] == | == Outbreaks[edit | edit source] == | ||
Revision as of 14:47, 10 August 2018
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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 et al. (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 et al found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia. In 2001 Levi et al discovered that iron accumulates in the mitochondria.
Historical Perspective
Discovery
- 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 et al. (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 et al found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia.
- In 2001 Levi et al discovered that iron accumulates in the mitochondria.
Outbreaks[edit | edit source]
There have been several outbreaks of [disease name], which are summarized below:
Landmark Events in the Development of Treatment Strategies[edit | edit source]
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].