anemia, sideroblastic, pyridoxine-refractory autosomal recessive

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anemia, sideroblastic, pyridoxine-refractory autosomal recessive

A form (OMIM:205950) of sideroblastic anaemia that is unresponsive to pyridoxine. Sideroblastic anaemia is characterised by anaemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and ringed sideroblasts in bone marrow, so named for the clustering of iron-laden mitochondria around the nucleus.
 
Molecular pathology
Defects in SLC25A38—which encodes a mitochondrial carrier protein thought to be involved in heme synthesis, possibly by facilitating 5-aminolevulinate (ALA)  production—are a cause of pyridoxine-refractory autosomal recessive sideroblastic anaemia.