Transfusion dependent anemia

Author: Pediatric Oncall

Question
A 5 year old boy presented with lump on left side of abdomen since 1 year of age and recurrent anemia since 1 year of age for which he was given blood transfusion 4 times. He had been investigated for same and was found to have anemia with high reticulocyte count. Hemoglobin electrophoresis, osmotic fragility and G-6-PD were normal. Serum iron studies at 1½ years of age showed low serum iron [(34 pg/ml (Normal = 75-150 pg/ml)], Total iron binding capacity [354 (Normal = 300 to 400)] and transferrin saturation of 9.6% (Normal = 20-50%). He had a poor diet with no vegetables in diet but had non-vegetarian food. Other family members were normal. On examination, he was pale, had tachycardia (heart rate = 130/min) with raised JVP and massive splenomegaly (upto umbilicus) with hepatomegaly and hemolytic facies. Investigations showed:
• Hemoglobin = 4.1 gm/dl
• WBC count = 15,500/cumm [44% polymorphs, 50% lymphocytes, 4% eosinophils]
• Platelet = 1,77,000/cumm
• MCV = 95.5 fl (70-86 fl = Normal)
• MCH = 30.9 pg (Normal = 24-30 pg)
• MCHC = 32.4% (Normal = 34%)
• Reticulocyte count = 3.2%, RDW = 29%
• Peripheral smear = Hypochromia, microcytosis, anisocytosis
• ESR = 7 mm at end of 1 hour
• Liver function tests, Renal function tests = Normal
• USG Abdomen = Splenohepatomegaly
• X-Ray skull = No osteopetrosis, Hair on end appearance present.
• Pyruvate kinase = 6.27 IU/gHb (Normal = 9.85-15 IU/gmHb)
• Vitamin B12 = 428 pg/ml (Normal)
• Folic Acid = > 15 ng/ml (Normal)
• Serum Ferritin = 107.6 ng/ml (Normal)

What is the diagnosis?

Previous Discussions View All