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.