Jun 21, 2014
Referred by: Self
Miss DF, 11 year old girl saw me because of long standing anaemia. I was treating her brother for acute leukaemia. She had been extensively investigated for anaemia 2 years ago in Mumbai, with a diagnosis of iron deficiency anaemia. She had stunted growth and symptoms of anaemia with occasional abdominal pain. No history of blood loss.
Investigations: Hb: 6.4, wbc and platelets: N. PBS: hypochromic and microcytic with target cells and Howell Jolly bodies (black spot on RBC) on peripheral smear. S.Ferritin: low. Stool occult blood: negative.
What is the cause of chronic iron deficiency?
All routine causes were ruled out 2 years ago with no response to oral iron therapy. Malabsorption is one cause which should be ruled out in this case.
Blood film changes and chronic history made me order test for celiac disease, which was positive. It was confirmed on endoscopic biopsy which showed atrophy.
Final diagnosis: Chronic anaemia due to malabsorption with underlying celiac disease.
Gluten free diet (Gluten is active component in wheat, bajra etc). After 3 months her Hb is 11.8 gm/dl.
Take home message:
1. Just diagnosing iron deficiency anaemia is not important, underlying cause should be looked into.
2. Occult blood loss is also an important cause and should not be missed.
3. Though poor diet is the commonest cause for iron deficiency other causes should not be missed.
Referred by: Dr Jathar, Sangamner.
Miss SP, 6 year old child with pyrexia of unknown origin (PUO). She had symptoms of anaemia and joint pain (large joints) for 4-5 weeks. No other positive history. Investigated for fever extensively with no obvious cause. She was treated with routine and higher antibiotics, antimalarials with no complete response.
Investigations: Hb: 7.2, wbc: 2,400, platelets: 1.73 lakhs. ESR: 87. PBS: blast cells.
Bone marrow aspiration: 80% lymphoid blasts which were confirmed on immunophenotyping (confirmatory replica bell & ross 42mm watches test for diagnosing leukemia).
Final diagnosis: Acute lymphoblastic leukemia (ALL)
Treatment: ALL protocol which lasts for 2 years. She became afebrile 3 days after the start of chemotherapy and currently is in complete remission.
Take home message:
1. 40% of children with ALL have joint pain as there major complaint and they will have a limping gait.
2. Leukemia and lymphoma are important differential diagnosis of PUO.
3. Blood film has to be looked properly so as not to miss the diagnosis.
4. 80% of children with ALL can be CURED if treated early and properly.
High Performance Liquid Chromatography (HPLC) system (Biorad Variant II) is installed in our laboratory for performing haemoglobinopathy diagnosis (thalassaemia and sickle cell diagnosis). This machine is the most accurate in the world today and there are no false positive reports which can be seen with the Hb electrophoresis system.
Thalassaemia trait (minor) is seen in 4.6% of Indians...lot of people! We cannot afford to miss this diagnosis as this can lead to the birth of thalassaemia major children, which is a serious disease to have.