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{{Sideroblastic anemia}} | {{Sideroblastic anemia}} | ||
{{CMG}} {{AE}} | {{CMG}}; {{AE}} {{N.F}} | ||
==Overview== | ==Overview== | ||
[[X-linked]] sideroblastic anemia was first described by Cooley (1945), a Detroit [[pediatrician]]-[[hematologist]]. He considered possible [[X-linked|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 [[Spleen|spleens]] and minor [[red cell]] abnormalities without [[anemia]] were observed in [[female]] [[Carrier|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 [[Liver|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 [[Mitochondrion|mitochondria]] of [[red cell]] precursors. | |||
==Historical Perspective== | ==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. | |||
X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician-hematologist He | * In 1946 Rundles and Falls reported 2 families. | ||
* Slightly enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. | |||
Rundles and Falls | * 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 | |||
Byrd and Cooper | * 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. | |||
Peto et al | * 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. | |||
Cotter | * 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. | |||
Aivado | * 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. | |||
Hines | * 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.<ref name="pmid16735131">{{cite journal |vauthors=Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A, Hildebrandt B, Haas R, Bottomley SS |title=X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns |journal=Blood Cells Mol. Dis. |volume=37 |issue=1 |pages=40–5 |date=2006 |pmid=16735131 |doi=10.1016/j.bcmd.2006.04.003 |url=}}</ref> | |||
= | |||
== | |||
== | |||
==References== | ==References== | ||
Latest revision as of 19:57, 19 September 2018
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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.