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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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Overview


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

References

  1. Escott-Stump S. Nutrition and Diagnosis-Related Care. Lippincott Williams & Wilkins; 2007;
  2. Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. Online Mendelian Inheritance in Man. 2009; http://omim.org/entry/205950. Accessed 10/26/2011.
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  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
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