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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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What is sideroblastic anemia pyridoxine-refractory autosomal recessive?

Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia.[1] It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).[2]
Last updated: 10/26/2011

What are the signs and symptoms of sideroblastic anemia pyridoxine-refractory autosomal recessive?

The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[3] These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain.[3][4] Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales.[3] 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.[5] In severely affected children, growth and development may be affected.[5]

In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years[5]. However, in some individuals there is an unexplained progression of the anemia over time.[5]

Last updated: 10/28/2011

What causes sideroblastic anemia pyridoxine-refractory autosomal recessive?

Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion.[2] Click here to learn more about autosomal recessive inheritance.
Last updated: 10/28/2011

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.[5] Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation.[5] Total splenectomy is contraindicated in this disorder.[5] This form of sideroblastic anemia is not associated with an increased risk for leukemia.[5]

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.[6]

All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.[1][3]
Last updated: 10/28/2011

References
  • Escott-Stump S. Nutrition and Diagnosis-Related Care. Lippincott Williams & Wilkins; 2007;
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. Online Mendelian Inheritance in Man. 2009; http://omim.org/entry/205950. Accessed 10/26/2011.
  • Ferri F. Anemia, Sideroblastic. Ferri's Clinical Advisor 2010, 1st ed. . Elsevier; 2009;
  • Anemias, Sideroblastic. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Anemias%2C%20Sideroblastic. Accessed 12/9/2009.
  • Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;
  • 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.
Other Names for this Disease
  • Pyridoxine refractory sideroblastic anemia
  • RARS
  • Refractory anemia with ringed sideroblasts
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.