Diagnostic Dilemma

Transfusion dependent anemia


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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?
Expert Opinion :
This child has presented with a massive splenomegaly with hepatomegaly, hemolytic facies and intermittent blood transfusion requirement. Thus, one would consider hemolytic anemia as a diagnosis with clinical presentation like a thalassemia intermedia. Common causes such as hemoglobinopathies, hereditary spherocytosis, osteopetrosis, enzyme deficiencies have been ruled out in this child. Also, though child did have low iron or iron studies, serum Ferritin is normal ruling out iron deficiency anemia. Ferritin is usually elevated in hemolytic anemia but may be normal with dyserythropoietic anemias. Also the reticulocyte count is not high for a hemolytic anemia suggesting that destruction of the RBCs seem to be taking place in the marrow itself leading to extramedullary hematopoiesis causing hepatomegaly, splenomegaly and hair on end appearance of the X-Ray skull. A bone marrow done in this child showed congenital dyserythropoietic anemia.
Answer Discussion :
A
aliyu lamidi
bubble
A case of blood surge in Arizon to a calpillary of upsurge to downside of upturn diagnoses prevention is eminent take amiability to reason with self control and easy does it phensic Fansidar and paracetamol with pepper soup or pottage would do just fine.
3 years ago
N
nirmala thomas
bubble
Pyruvate kinase deficiency hemolytic anemia
3 years ago

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