Introduction: The underlying diagnosis of severe anaemic illnesses in children may not be easy to identify at times, especially when regular blood transfusion has been started.Materials and Methods: International children patients attending a haematology clinic for diagnostic evaluation were identified retrospectively if they had to receive repeated blood transfusions with an undiagnosed illness or an incorrect diagnosis. Their demographic data, presenting features, and eventual diagnosis were described. Results: Twelve children including 7 boys were enrolled from March 2007 to August 2011. Five came from Vietnam; 2 each came from Bangladesh and Indonesia; and 1 each from Hong Kong, Myanmar, and Ukraine. Their illnesses started at a mean age of 1.5 years (0.1 to 6.6) and they had been receiving blood transfusion for a mean duration of 2.5 years (0.1 to 9.9) years prior to the evaluation. Thalassemia major was the first diagnosis in 5 cases; one had been treated for autoimmune haemolytic anaemia while the rest had not been given a diagnosis. After the evaluation, 4 children were diagnosed with Diamond Blackfan anaemia, 3 were diagnosed with hereditary spherocytosis, and one each with hereditary pyropoikilocytosis, congenital sideroblastic anaemia, congenital thrombotic thrombocytopenic purpura, transient erythroblastopenia of childhood, and autoimmune myelofibrosis associated with human immunodeficiency virus infection. Conclusion: A definitive diagnosis can be identified in this cohort of children on medical tourism with severe anaemic illnesses requiring repeated transfusions with diagnostic approaches that circumvent the interference of transfused cells
Childhood anaemia can either be a sign of haematologic disorders or as part of a multisystem disease. There are myriads of causes, which can be primary or secondary, inherited or acquired. A thorough medical history, including family history and perinatal events, physical examination, and a stepwise, logical approach to laboratory investigations are required to reach the underlying diagnosis. For children presenting with severe anaemia, a dilemma of arriving at an accurate diagnosis and starting blood transfusion treatment in time may be encountered. Once a blood transfusion has been given, further evaluation for the cause of anaemia may become more difficult. While general approaches to the diagnostic evaluation of anaemic children can be found in standard textbooks or review articles, strategies in resolving diagnostic mysteries concerning children with severe anaemia who are already on blood transfusion treatment are lacking.
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