Congenital dyserythropoietic anemia type 2

Disease Overview

Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from mutations in the SEC23B gene. It is inherited in an autosomal recessive pattern. Treatment depends on the severity of the symptoms and may involve blood transfusions, iron chelation therapy and removal of the spleen and gallbladder.[5243][7182]

Synonyms

• CDAN2
• Anemia, dyserythropoietic, congenital type 2
• CDA II
• Dyserythropoietic anemia, HEMPAS type
• HEMPAS anemia
• Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test
• CDA type II
• Congenital dyserythropoietic anemia type II
• Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
• SEC23B-CDG