Category Archives: Inherited bleeding

Case 92 – summary

Thanks for your help with the cases. This week we have looked at three different scenarios regarding bleeding or bruising presenting in the paediatric population. The cases although different have some common themes: Coagulation testing in paediatrics is challenging for … Continue reading

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Case 92- update part C

We have a 7 year old boy who has presented with bruises over abdomen and one on his ear. Social services have been contacted as there is concern this may be an NAI. The boy is otherwise well has no … Continue reading

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Case 92 – part C

Thanks for your help with case 2 the patient has been diagnosed with Ehlers Danlos and will have an echo arranged to check for any cardiac problems. You now receive a call from the local district general hospital regarding a … Continue reading

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Case 92 – part B

Thanks for your help with case 1 the baby is improving. The following morning you as the Haematology registrar have been referred a 5 year old girl who presented due to parental concern with easy bruising. The bruising was noted … Continue reading

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Case 92 – update part A

Thanks for your help so far An 8 week old baby boy born at 40+2 by Normal vaginal delivery has a CT that confirms a subdural haemorrhage. Results: (With age adjusted reference ranges) FBC – Hb 120 (Low) MCV 120 … Continue reading

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Case 92 – the beginning

This week we will be looking at investigation of bleeding and bruising in the paediatric setting with three short cases. Case 1 An 8 week old baby boy born at 40+2 by Normal vaginal delivery presents with a reduced consciousness … 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 79 – summary

Thankyou for your help this week! This week we had a look at HHT. Our patient was diagnosed with HHT aged 30 after a history of epistaxis was noted. On further questioning she was also found to have cutaneous telangectasia. … Continue reading

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Case 79 – update 2

We have found out our patient has HHT. We know she has epistaxis, and cutaneous telangectasia. She has also required courses of iron for iron deficiency, and is currently anaemic. Patients with HHT may develop AVM and some teamhaem follower … Continue reading

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Case 79 – update 1

So we have an update Our patient has presented with a long history of epistaxis. There is no history of easy bruising.  No bleeding after tooth extraction Her mother died of a brain haemorrhage and also had significant history of … Continue reading

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Case 79 – the beginning

Welcome to our new case! This week we start with a 30 year old lady who has come to her GP for a routine discussion for the contraceptive pill. In her medical history you note that she has had significant … 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 76 – update 1

Our three day old child is admitted unwell and has deranged clotting with a markedly prolonged APTT. The team wanted an ultrasound scan which confirms a small intraparenchymal bleed. Repeat coagulation testing shows: PT 18s (12-14 adult) APTT 92s (30-38 … Continue reading

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