Article
Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
The Journal of clinical investigation - 1 Oct 1995
Cotter P D, May A, Fitzsimons E J, Houston T, Woodcock B E, al-Sabah A I, Wong L, Bishop D F
Abstract excerpt
X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-responsive XLSA...
Topics
- 5-Aminolevulinate Synthetase
- Aged
- Aged, 80 and over
- Anemia, Refractory
- Anemia, Sideroblastic
- Base Sequence
- Bone Marrow
- Erythrocytes
- Female
- Genetic Linkage