Mutations in SLC25A38 are a rare cause of congenital sideroblastic anemia.
Gene: SLC25A38 (solute carrier family 25 member 38)
Product: mitochrondial importer of glycine, a substrate used in heme biosynthesis
Inheritance: autosomal recessive
(1) early onset severe hypochromic anemia
(2) pyridoxine refractory (some show transitory response)
(3) ringed sideroblasts in the bone marrow
(4) transfusion dependency with iron overload unless hematopoietic stem cell transplant
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Specialty: Hematology Oncology