Congenital dyserythropoietic anemias

Congenital dyserythropoietic anemias (CDAs) is a rare group of inherited anemias characterized by ineffective erythropoiesis and pronounced morphological abnormalities in erythroid precursors in the bone marrow. There are several CDA (I–IV) types, each associated with specific mutations in genes such as CDAN1, C15orf41, SEC23B, KIF23, and KLF1, leading to variable phenotypic manifestations. CDA type II is the most common variant among all CDAs and presents with normocytic anemia of varying severity, jaundice, and splenomegaly. The diagnosis of these genetically determined conditions is based on molecular genetic testing and morphological identification of specific abnormalities in erythroid precursors, with each type of CDA showing distinctive features, such as the presence of internuclear chromatin bridges in CDA type I and erythroblasts with two or more nuclei in CDA type II. Current treatment approaches play primarily a supportive role and include blood component transfusions, monitoring, and correction of iron overload. Hematopoietic stem cell transplantation is currently the only curative option for patients with CDA. Overall, the prognosis for this category of patients is favorable; however, the challenge lies in the heterogeneity of clinical and laboratory manifestations, which often makes it difficult to establish a definitive diagnosis.