Congenital dyserythropoietic anemia (CDA) is an autosomal recessive disorder that affects erythropoiesis. Due to dyserythropoiesis (abnormal red blood cell formation), erythroblasts (immature red blood cells) present in patients with CDA has an odd shape and extra nuclei which cannot develop into functional normal red blood cells. The clinical features of CDA include fatigue, weakness, pale skin, and further complications. CDA consists of three main forms: type I, type II, and type III. CDA type I is distinguished by moderate to severe anemia. It is diagnosed during childhood or adolescence, though some cases can be identified prenatally. Patients with CDA type I suffer from jaundice, hepatosplenomegaly, and iron build-up, which can lead to tissue and organ damage, arrhythmia, cirrhosis, diabetes, and congestive heart failure. Certain CDA type I cases are also reported with skeletal anomalies affecting the fingers and/or toes.
Congenital dyserythropoietic anemia (CDA) type I is associated with mutations in the CDAN1 (Codanin 1) gene, which encodes a protein involved in chromatin assembly and protein localisation.
Zaki et al. (1989) reported two children with congenital dyserythropoietic anemia; one of them had Type I and the other Type II. Both were dependent on blood transfusion.
Sabry et al. (1997) described a family with three sibs with CDA in association with certain non-hematological traits. These traits included growth retardation, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, phalangeal hypoplasia, Madelung deformity, toe sydactyly, and hallux valgus. These patients also had a low mitotic index of the peripheral blood lymphocytes. These features prompted the authors to consider the emergence of a new syndrome.
Berrebi and Efrati (1974) indicated the occurrence of congenital dyserythropoietic anemia in Moroccan Jews.