Introduction:

Congenital dyserythropoietic anemias belong to a group of hereditary disorders characterized by refractory anemia, ineffective erythropoiesis and morphological alterations of erythroblasts. Congenital dyserythropoietic anemia type I is the most frequent; however, it is a rare disease with morphological and molecular characteristics.

Objective:

To analyze the most updated aspects regarding molecular pathogenesis, genetic diagnosis and treatment of congenital dyserythropoietic anemia type I.

Methods:

A review of the literature in English and Spanish was carried out. Search engines such as Google Scholar and Pubmed were used, which allowed access to updated articles on the subject. An analysis and summary of the revised bibliography was carried out.

Information analysis and synthesis:

Congenital dyserythropoietic anemia type I is an autosomal recessive hereditary disease. It is characterized by anemia of variable degree, reticulocytopenia, morphological alterations of the red series in the peripheral lamina, and high number of binucleated erythroblasts connected by internuclear bridges in the bone marrow aspirate. Multiple molecular alterations have been identified, mainly involving the CDAN1 and C15orf41 genes. The proteins encoded by these genes participate in vital processes, such as the cell cycle, DNA repair, and RNA transcription.

Conclusions:

The study of the molecular bases of congenital dyserythropoietic anemia type I has changed the perspective concerning the diagnosis of this disease. Treatment protocols are similar to other hereditary hemolytic anemias, although the use of Interferon-α stands out.

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