Molecular genetics of congenital Siberoblastic Anemia
The body uses iron largely to make heme, the molecule in hemoglobin in red blood cells (RBCs) that binds oxygen, and delivers it to the tissues. Heme synthesis occurs, in part, in the mitochondrial compartment within the cell. In a rare group of inherited disorders called congenital sideroblastic anemias (CSAs), iron precipitates in mitochondria, impairing RBC production. Sometimes, the defect that leads to this abnormality is a mutation in a protein involved in the synthesis of heme, but in more than 40% of cases of CSA, the genetic basis of the disorder is unknown. Consequently, many patients that might benefit from therapies tailored to the genetic cause of the disease are not afforded this possibility. The primary aim of this proposal is to identify novel causes of CSA by applying molecular genetic techniques a large repository of CSA patient DNA.