Search

Iron studies are frequently requested in paediatric practice. They are useful both as a diagnostic tool and as a way of monitoring certain conditions, particularly those causing iron overload. This article outlines the physiology of iron metabolism and discusses laboratory aspects of performing iron studies, including factors influencing interpretation. Clinical scenarios are used to highlight how the tests can be used in different clinical situations.

The diagnostic relevance of the blood film cannot be underestimated in the assessment of children with suspected primary or secondary haematological conditions. The blood film not only serves as a diagnostic tool but also allows for screening, monitoring of disease progression and therapeutic response in children with a variety of haematological conditions. This article outlines the appearance of normal paediatric and neonatal blood films. The technical aspects involved in preparing a blood film are discussed. Consideration is given to the indications for preparing a blood film and some of the limitations of blood films. Finally, attempts are made to highlight the role of the blood film in the diagnosis of some common paediatric and neonatal conditions.

There is a lack of evidence-based guidance for the prevention and management of thrombosis in children and young people treated for acute lymphoblastic leukemia. To determine current UK practice, a survey was sent to 28 centers participating in the Medical Research Council UKALL 2011 trial. Marked variation in practice was noted. In total, 43% of centers defer central venous access device insertion until end of induction for treatment of low-risk disease. Central venous access devices are removed at the end of intensive blocks in 38% and end of treatment in 42%. Duration of anticoagulation for line-associated thrombosis is 6 weeks in 43% and 3 months in 33% and for cerebral sinovenous thrombosis is 3 months in 71% and 6 months in 24%. Platelet transfusion to maintain platelet count >50×109/L, in preference to interrupting therapeutic anticoagulation, is used by 50% for line-associated thrombosis and 73% for cerebral sinovenous thrombosis. Conformity of practice was seen in some areas. In total, 70% treat thrombosis with twice-daily low–molecular weight heparin and 86% monitor antifactor Xa activity levels. In total, 91% reexpose individuals to asparaginase following a thrombotic event. Given this variation in practice, in the absence of high-quality evidence, consensus guidelines may be helpful.

A 6-year-old girl presented with presumed relapse of childhood immune thrombocytopenia. Investigations revealed deranged coagulation parameters, abnormal small bowel thickening, and splenomegaly. A clinically significant bleeding diathesis emerged which was refractory to most hemostatic interventions. Laparatomy revealed a composite diagnosis of splenic hemangiomatosis and small bowel lymphangiomatosis. Splenectomy resulted in complete resolution of the coagulopathy. The diagnosis and management of these conditions is inherently complex and without clear guidance. We discuss our perioperative management of the bleeding diathesis. There is a need for long-term follow-up of the underlying pathologies particularly as potentially useful therapeutic agents have emerged.

No relevant conflicts of interest to declare.

BCR-ABL1-like acute lymphoblastic leukaemia (ALL) is a subgroup of B cell precursor (BCP) ALL, which has a similar gene expression profile to BCR-ABL1positive ALL and shares the same high risk of relapse. BCR-ABL1-like ALL is genetically heterogeneous and no single abnormality defines them. However a number of novel fusion genes have been reported in this subgroup, which involve the kinase genes: PDGFRB, CSF1R, ABL1, ABL2and JAK2. Studies have shown that patients with these fusions may also respond to tyrosine kinase inhibitors (TKI), such as imatinib. Here we present a subset of patients with the SSBP2-CSF1Rfusion, including a patient treated with imatinib after relapse.