A RARE CAUSE OF ANEMIA IN ADULTHOOD CONGENITAL DYSERYTHROPETIC ANEMIA

Abstract

Objective: Congenital dyserythropoietic anemia is a group of diseases characterized by ineffective erythropoiesis and multinuclear erythroblasts, mostly diagnosed in childhood. Although there are 3 main types, type II is the most common. We present our patient with congenital dyserythropoietic anemia, who was not diagnosed until the age of 49, to contribute to the literature. Case report: A 49-year-old male patient was admitted to our hospital with abdominal pain, weakness and yellowing of the eyes. His examinations revealed splenomegaly, cholelithiasis, anemia and hyperbilirubinemia. In the patient's anamnesis, he stated that he had jaundice and weakness since childhood, and that he knew that he had abdominal pain and spleen enlargement with advancing age. Methodology: Bone marrow biopsy was performed to the patient for a different diagnosis and cause. Binuclear erythrobasts were observed in the patient (fig. 1). As a result of the new generation sequencing performed on the patient who was evaluated as familial non-immune hemolytic anemia, c.1733T>C homozygous mutation in exon 15 of the SEC23B gene was detected and a diagnosis of congenital dyserythropetic anemia type II was made Results: Congenital dyserythropoietic anemias (CDA) represent a large group of diseases that mainly result in ineffective erythropoiesis. Morphological changes observed in the bone marrow over a long period of time were its main diagnostic features. Together with 3 main subtypes, they are examined in a total of 5 subtypes. CDA type II is most common. Clinically normal or slightly increased reticulocyte count is characterized by a variable degree of normocytic anemia. Conclusion: Diagnosing CDA cases: It is closely related to the clinician's ability to remember and access genetic tests, especially in advanced ages. Considering that access to genetic tests will increase in the future, many undiagnosed cases may come up. Although our treatment possibilities are limited in the current situation, future treatment methods are promising. However, studies are still needed to understand this disease and its mechanisms.