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

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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

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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

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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

Posted in Bone marrow failure, Myeloproliferative neoplasm, Paediatric haematology | Tagged , , , , , , , , , , , , ,

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

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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

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Case 83 – summary

Many thanks to everyone who contributed to our case. This week the case centred on a pregnant female who was an obligate carrier of Haemophillia A (Her Father was affected). She had a factor VIII level of 54%. She was … Continue reading

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Case 83 – update 3 

Our pregnant patient had a factor VIII level of 54%. She is a carrier of intron 22 inversion as predicted from family history.  The free fetal DNA testing confirms she is carrying a male fetus. The patient has decided that … Continue reading

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Case 83 – update 2

Our pregnant patient returns to clinic she is now 13 weeks pregnant.  Her factor VIII level was 54%. She is a carrier of intron 22 inversion as predicted from family history.  The free fetal DNA testing confirms she is carrying … Continue reading

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Case 83 – update 1

After consideration of her family tree you realise  if there are no non-paternity issues she is an “obligate carrier” of Haemophillia A.  After counselling and discussion she agrees to having genetic testing for herself. She is willing to have free … Continue reading

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Case 83 – the beginning

You are in a joint obstetric haematology clinic and have been referred a 24 year old lady who is 13 weeks pregnant P0 G1 You take a family history and find her father and paternal uncle have severe Haemophillia A. … Continue reading

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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

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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

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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

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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

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Case 71 – summary

Our patient had high ferritin which was detected on a routine blood test. Hyperferritinaemia is common and causes can usually be differentiated by history and clinical examination. Potential causes include: Any inflammation including rheumatological conditions and renal failure Infections Liver … Continue reading

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Case 71 – update 3

The patient has 500mL of blood venesected and tolerates this well. He stops drinking alcohol and within six weeks his ALT is almost within the reference range.   He has two children – one male and one female.   Questions … Continue reading

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