Mutations in SLC25A38 are a rare cause of congenital sideroblastic anemia.
Chromosome: 3p22.1
Gene: SLC25A38 (solute carrier family 25 member 38)
Product: mitochrondial importer of glycine, a substrate used in heme biosynthesis
Inheritance: autosomal recessive
Features:
(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
