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Tag Archives: genetics
Case 99 – Summary
Thank you for your contribution in our #TeamHaem case this week. This week we have been looking at Diamond Blackfan anaemia (DBA). This is a rare, genetically and clinically heterogeneous, inherited red cell aplasia. It is one of the Inherited … Continue reading
Case 99 – update 5
Genetic testing on both parents and her brother are carried out and are all negative. Hence this is a de novo mutation of RPL5 in our little girl. You also carry out HLA typing on her and her brother, who … Continue reading
Case 99 – update 4
Based on a diagnosis of Diamond Blackfan anaemia, a decision is made to start a regular transfusion programme until she is over 1 year of age to minimise the impact of steroids on her growth. It will also allow her … Continue reading
Posted in Anaemia, Paediatric haematology
Tagged anaemia, Diamond Blackfan anaemia, family screening, genetics, paediatrics, Pure red cell aplasia
Case 96 – summary
Thank you for participating in our case this week. This week we have been looking at a case of JMML (Juvenile myelomonocytic leukaemia), which is a rare clonal haematopoietic disorder of childhood, characterised by the proliferation of granulocytic and monocytic … Continue reading
Case 96 – update 4
The haematology team has now taken over his care. Bone marrow aspirate has demonstrated a hypercellular marrow with left shift, and there are increased myeloid and monocyte lineages. Blast count is about 4%. There is occasional evidence of haemophagocytosis and … Continue reading
Case 96 – update 3
The blood film has been reported: – leukocytosis with neutrophilia and monocytosis, there is left shift and toxic granulation and vacuolation. Occasional primitive cells ~ 2%. No nucleated RBCs. The appearances might be reactive/infection related, and infection as well as … Continue reading
Case 76 – summary
This case focussed on a newly diagnosed patient with haemophilia A. The patient was three days old and presented non-specifically unwell and feeding poorly. The differential here is wide from sepsis to hypoglycaemia to congenital heart defects and metabolic disorders. … Continue reading
Posted in Inherited bleeding, Paediatric haematology
Tagged 50:50 Mix, bleeding, FFP, genetics, haemophilia, haemophilia A, inhibitor, neonatal, paediatrics, Prolonged APTT
Case 76 – update 4
Our patient is doing well with recombinant VIII replacement. Monitoring scans reveal shrinking of the haemorrhage. On further questioning his mother suffered bleeding post dental extraction requiring re-packing and menorrhagia along with easy bruising. Haemophilia A is an X linked … Continue reading
Posted in Inherited bleeding, Paediatric haematology
Tagged 50:50 Mix, bleeding, FFP, genetics, haemophilia, haemophilia A, inhibitor, neonatal, paediatrics, Prolonged APTT
Case 76 – update 3
Our patient is started on recombinant factor VIII replacement and achieves a trough level of 100%. Neurosurgery is not required. Genetic samples are sent to examine the F8 gene to see where the mutation is as this can help investigate … Continue reading
Posted in Inherited bleeding, Paediatric haematology
Tagged 50:50 Mix, bleeding, FFP, genetics, haemophilia, haemophilia A, inhibitor, neonatal, paediatrics, Prolonged APTT
Case 76 – update 2
Factor assays are back. IX, XI and XII are within normal limits for neonates but VIII is <1%. This confirms the diagnosis of severe haemophilia A. The child is transferred to the regional haemophilia centre for intensive VIII replacement … Continue reading
Posted in Inherited bleeding, Paediatric haematology
Tagged 50:50 Mix, bleeding, FFP, genetics, haemophilia, haemophilia A, neonatal, paediatrics, Prolonged APTT
