Discussion
An uncommon hematological condition known as congenital dyserythropoietic anemia (CDA) has primarily been documented in Central and Western Europe and North Africa [1, 3]. The hallmark of the disease is ineffective erythropoiesis as the main feature, and there are distinct morphological abnormalities of the bone marrow’s erythroblasts. It should be considered in any patient with chronic anemia. It is classified into three types (CDA I, CDA II, and CDA III), with the most common being type II and CDA III and its nonfamilial type being the rarest. A majority of CDA cases are autosomal recessive in nature. [4].
To reach the precise diagnosis of congenital anemias is often delayed. Congenital anemia, jaundice, or hereditary evidence are necessary for diagnosing CDAs. Also, evidence of ineffective erythropoiesis should be present. In addition, the erythroblasts’ characteristic morphology is thought to be the key to making the diagnosis, and it is important to rule out congenital anemias, including thalassemia syndromes, hemoglobinopathies, and hereditary sideroblastic anemias. Ineffective erythropoiesis should be suspected if there is inadequate reticulocytosis to the degree of anemia despite erythroid hyperplasia; indirect hyperbilirubinemia and low haptoglobin indicates ongoing intramedullary and extramedullary hemolysis [4].
Moreover, if appropriate preparation techniques are applicable in bone marrow aspirate, hypercellularity and distinct erythropoietic hyperplasia is always seen in histobiopsies. By morphological study using light microscopy, CDA I can be diagnosed with great specificity. The most specific finding is the abnormality of chromatin structure with fine chromatin bridges. However, the most specific finding in CDA II is the existence of binucleated cells with two equal-sized nuclei in each cell. Pseudo-Gaucher cells that contain birefringent needles can be seen in types I and II [2]. Furthermore, iron loading and cholelithiasis are found in all forms of CDA [4]. Peripheral blood smear in most cases of CDA shows anisopoikilocytosis, mature erythroblasts, basophilic stippling, and poikilocytes [2].
Differential CDA diagnoses include thalassemia syndromes, some hemoglobinopathies, hereditary sideroblastic anemia, congenital myelodysplasia, and congenital anemia such as Blackfan-Diamond anemia and Fanconi anemia. Also, other forms of CDA should be taken into account [1]. Our patient has chronic anemia with chronic blood transfusion. Also, she has splenomegaly with features of extramedullary hematopoiesis. Moreover, a blood smear showed normochromic macrocytic RBCs with mild poikilocytosis and anisopoikilocytosis. The binucleated erythroid was found even in the peripheral blood, there was reticulocytosis with a negative direct coombs test. These laboratory results are commonly not observed in hemoglobinopathies or thalassemia syndromes. Hereditary sideroblastic anemia was ruled out because neither ringed sideroblasts nor dysplastic characteristics on the granulocytic/megakaryocytic lineage were discovered. Bone marrow aspirate showed hypercellularity, with the erythroid precursors quantitatively markedly increased; also, erythroid maturation was megaloblastic and dyserythropoietic with many binucleated forms. Blasts were not increased, and there was no evidence of fibrosis. These findings of bone marrow aspirate and laboratory results fit the diagnosis of congenital dyserythropoietic anemia type II.
In conclusion, any kid with chronic anemia, hepatosplenomegaly, evidence of extramedullary hematopoiesis, and characteristics of erythroid hyperplasia and dyserythropoiesis in bone marrow aspirate studies should be evaluated for congenital dyserythropoietic anemia. The diagnosis can be made with high accuracy using bone marrow aspirate analysis and peripheral blood smear analysis.