Congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type II (CDA II), or hereditary erythroblastic multinuclearity with positive acidified serum lysis test (HEMPAS)[1] is a rare genetic anemia in humans characterized by hereditary erythroblastic multinuclearity with positive acidified serum lysis test.

Researchers are working to determine how mutations in the SEC23B gene lead to the signs and symptoms of CDA type II.

[3] Analyses of CDA II erythrocyte membranes showed that the band 3 glycoprotein is underglycosylated.

[2] The anemia associated with CDA type II can range from mild to severe, and most affected individuals have jaundice, hepatosplenomegaly, and the formation of hard deposits in the gallbladder called bilirubin gallstones.

An abnormal buildup of iron typically occurs after age 20, leading to complications including heart disease, diabetes, and cirrhosis.