Sideroblastic anemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Historical Perspective
Discovery
X-linked sideroblastic anemia was first described by Cooley (1945), a Detroit pediatrician-hematologist He pointed out possible X-linkage in a family in which 19 males in 5 generations were affected, with transmission through unaffected females.
Rundles and Falls (1946) reported 2 families, . Somewhat enlarged spleens and minor red cell abnormalities without anemia were observed in female carriers. Pyridoxine responsiveness was demonstrated in at least 2 affected members of Rundles and Falls' family
Byrd and Cooper (1961) referred to the disorder as hereditary iron-loading anemia
Peto et al. (1983) focused attention on iron overload in mild sideroblastic anemia after the death from cardiac iron loading of a middle-aged woman with a very mild form of familial sideroblastic anemia.
Cotter et al. (1995) described a previously unaffected 81-year-old woman in whom microcytic sideroblastic anemia developed. The initial diagnosis was myelodysplastic syndrome, but the recognition of the X-linked congenital sideroblastic anemia allowed successful treatment with pyridoxine. She was found 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 pyridoxine-unresponsive sideroblastic anemia confirmed by genetic analysis. The disorder was variable in severity and X-chromosome inactivation studies were done.
Hines (1971) observed decreased levels of pyridoxal phosphokinase in red cells and livers of patients with pyridoxine-dependent refractory sideroblastic anemia.
Aoki et al. (1973) found deficiency of delta-aminolevulinic acid synthetase in the red cells of patients with sideroblastic anemia, some of whom were males with congenital anemia which in some responded to treatment with B6.
Recently, it has been proposed that iron accumulates within mitochondrial ferritin (Levi et al, 2001
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].