A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

X-linked sideroblastic anemia (XLSA) is caused by mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). XLSA was diagnosed in a 32-year-old woman with a mild phenotype and moderately late onset. Pyridoxine therapy had no effect in the proband, but in her affected son engendered a modest increase in hemoglobin concentration and a 4-fold reduction in ferritin iron.

Prognosis of myelodysplasic patients: non-parametric multiple regression analysis of populations stratified by mean corpuscular volume and marrow myeloblast number.

Myelodysplastic (MDS) patients at diagnosis (n = 162) were analysed by the International Prognostic Scoring System (IPSS). The two intermediate groups were not significantly different. The IPSS was of limited value in predicting survival of MDS patients after preliminary separation into subgroups with < 5%, or >/= 5%, myeloblasts.