Sideroblastic anemia pyridoxine-refractory autosomal recessive

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Disease 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.[1837] 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).[4583]


Synonyms

  • Acquired idiopathic sideroblastic anemia
  • AISA
  • Primary acquired sideroblastic anemia
  • Pyridoxine refractory sideroblastic anemia
  • Refractory anemia with ringed sideroblasts
  • RARS

For more information, visit GARD.

National Organization for Rare Disorders