Congenital Dyserythropoietic Anemia Type 2 (SEC23B)
Congenital dyserythropoietic anemia type 2 is an autosomal recessive disorder caused by pathogenic variants in the gene SEC23B. This disease is characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. The clinical manifestations include jaundice, gallstones, hepatosplenomegaly, and hematological anomalies such as ineffective erythropoiesis, hemolysis, and abnormal morphology of erythroblast. Although clinical prognosis is good, life expectancy depends on the severity of iron overload complications that can be fatal if not treated promptly.
For information about carrier frequency and residual risk, please see the residual risk table.