Case Presentation
A 6-year-old female patient presented with chronic anemia for evaluation. She was doing well until the age of 3 years when the mother started to notice gradual and progressive pallor. It was associated with lethargy and intolerance to exercise with attacks of palpitation. Since then, the patient has been treated as a case of hemolytic anemia with regular blood transfusion every 3 months.
The patient is the product of vaginal delivery, term, and no NICU admission. The patient had two previous admissions for chest infections before the age of 3 years. The patient had DDH.
The parents are consanguineous (first-degree). The patient has one younger healthy sister. No family history of chronic illnesses or splenectomy.
On examination, the patient had frontal bossing and mild maxillary hypertrophy with depression of the nasal bridge. The spleen was felt 6 cm below the costal margin.
Peripheral blood film showed normochromic macrocytic RBCs, marked polychromasia and binucleated erythroid, mild poikilocytosis (ovalocyte, teardrop, microspherocyte), few atypical lymphocytes with normal platelets (Fig. 1) .
Bone marrow smears showed distinct hypercellularity due to erythroid hyperplasia (Fig.3) . The myeloid/erythroid ratio was 6:1, and the erythroid precursors were quantitatively markedly increased; also, erythroid maturation was megaloblastic and dyserythropoietic with many binucleated forms (Fig.2) . Blasts was 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.