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autosomal dominant sideroblastic anemia

Disease Summary
Associated Targets (1)


Mondo Description Autosomal dominant form of sideroblastic anemia.
Uniprot Description A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families.
Mondo Term and Equivalent IDs
MONDO:0008422:  autosomal dominant sideroblastic anemia