Congenital dyserythropoietic anemia (CDA) describes a group of rare congenital diseases that result in a disorder of red blood cell formation.
The symptoms of CDA usually manifest in the childhood or early adulthood. Patients suffer from anemia, jaundice, spleno- or hepatomegaly. Signs of anemia include weakness, headache, confusion, tachycardia, insomnia and possible leg cramps.
There are five defined types of disease (CDA I-IV, thormocytopenia with CDA).
Patients with CDA I usually have moderate macrocytic anemia, often splenomegaly, more rarely hepatomegaly, and intermittent jaundice. Malformations of the limbs, heart defects, renal anomalies and hip dysplasias affect about one third of the patients. However, the most serious complication is possible organ damage due to iron overload.
CDA II is the most common type of disease and is characterized by anemia, jaundice and splenomegaly seen in children or adolescents. In addition, iron overload and gallstones are common symptoms.
An extremely rare form is CDA III, which describes mild hemolytic anemia and the tendency to form vessel-like streaks on the fundus, as well as gammopathies and myelomas.
A large number of nucleated erythrocytes in peripheral blood is the most important feature of the fourth type of disease (CDA IV).
In thrombocytopenia with CDA there are dysmorphic erythrocytes in the peripheral blood as well as a lack of platelets.