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.