Sideroblastic anemia pyridoxine-refractory autosomal recessive
Other Names for this Disease
- Pyridoxine refractory sideroblastic anemia
- Refractory anemia with ringed sideroblasts
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The symptoms of sideroblastic anemia are the same as for any anemia and iron overload. These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain. Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales. Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease. In severely affected children, growth and development may be affected.
In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years. However, in some individuals there is an unexplained progression of the anemia over time.
Last updated: 10/28/2011
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- Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;