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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sideroblastic anemia pyridoxine-refractory autosomal recessive


Other Names for this Disease
  • Pyridoxine refractory sideroblastic anemia
  • RARS
  • Refractory anemia with ringed sideroblasts
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Treatment


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How might sideroblastic anemia pyridoxine-refractory autosomal recessive be treated?

Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload.[1] Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation.[1] Total splenectomy is contraindicated in this disorder.[1] This form of sideroblastic anemia is not associated with an increased risk for leukemia.[1]

A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered.[2]

All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.[3][4]
Last updated: 10/28/2011

References
  1. Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;
  2. Alcindor T, Bridges KR. Sideroblastic Anemias. The Information Center for Sickle Cell and Thalassemic Diseases. 2001; http://sickle.bwh.harvard.edu/sideroblastic.html. Accessed 12/9/2009.
  3. Escott-Stump S. Nutrition and Diagnosis-Related Care. Lippincott Williams & Wilkins; 2007;
  4. Ferri F. Anemia, Sideroblastic. Ferri's Clinical Advisor 2010, 1st ed. . Elsevier; 2009;


Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Sideroblastic anemia pyridoxine-refractory autosomal recessive. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.