Congenital dyserythropoietic anemia (CDA) is an autosomal recessive blood disorder that influences the growth of 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 through moderate to severe anemia and diagnosed throughout childhood or adolescence, even though some cases can be identified prior to birth. Patients with CDA type I experience jaundice, hepatosplenomegaly, and iron buildup which can lead to tissue and organ damage, arrhythmia, cirrhosis, diabetes, and congestive heart failure. Seldom, some CDA type I cases are born with skeletal anomalies most frequently involving the fingers and/or toes. The incidence of CDA type I is unidentified due to its rarity and the difficulty in the diagnosis as a result of the overlap of its signs and symptoms with other disorders leading to it being inaccurately diagnosed or undiagnosed.
et al. (1989) reported two children with congenital dyserythropoietic anemia; one of them had Type I and the other Type II while both were blood transfusion-dependent. One of the subjects suffered from severe anemia throughout his sickness, which was considered an odd discovery within this disease.
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 Jews from Morocco.