Tag Archives: haemophilia

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

Posted in Inherited bleeding, Paediatric haematology, Related to other specialities | Tagged , , , , , , ,

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

Posted in Inherited bleeding, Paediatric haematology, Related to other specialities | Tagged , , , , , , ,

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

Posted in Inherited bleeding, Related to other specialities | Tagged , , , , , ,

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

Posted in Inherited bleeding, Related to other specialities | Tagged , , , , ,

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

Posted in Inherited bleeding, Related to other specialities | Tagged , , , , , ,

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 , , , , , , , , ,

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 , , , , , , , , ,

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 , , , , , , , , ,

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 , , , , , , , ,

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

Posted in Inherited bleeding, Paediatric haematology | Tagged , , , , , , ,

Case 64 – part 1 – summary

We started with a 72 year old gentleman who was having an elective pacemaker insertion. He had an isolated prolonged APTT and we have previously used the following flow chart to make a diagnosis:   It should be remembered that … Continue reading

Posted in Inherited bleeding | Tagged , , , , , , , , , , , ,

Case 64 – part 1c

Our patient has a long APTT and has a haematoma and extensive bruising following pacemaker insertion. He is not on any anticoagulation, but does not have any previous clotting screens to compare to. Given the bleeding history, FFP is administered … Continue reading

Posted in Inherited bleeding | Tagged , , , , , , , , , ,

Case 64 – part 1b

The patient with abnormal clotting resulst goes ahead with his planned pacemaker insertion. There is no major bleeding during the procedure but afterwards there is a large haematoma around the pocket with extensive bruising.   Repeat clotting screen shows: PT … Continue reading

Posted in Inherited bleeding | Tagged , , , , , , , ,

Case 64 – part 1a

This week we’re going to present a series of short cases around clotting results. Hopefully we’ll demonstrate when coagulation screens should be used and also how to interpret basic abnormalities. It most be noted that different labs will use different … Continue reading

Posted in Inherited bleeding | Tagged , , , , , , , ,

Case 35 – summary

Thank you for all of your comments this week! This week we took a walk through acquired factor VIII inhibitors. Acquired haemophilia A is a rare disorder with an incidence of around 1.5 per 1 million per year. There can … Continue reading

Posted in Acquired bleeding | Tagged , , | 1 Comment

Case 35 – update 2

We have diagnosed our patient with acquired haemophilia A. They have also had a CT scan which is highly suspicious of a caecal cancer. Given the acquired haemophilia it was felt unsafe to proceed with invasive investigations for the caecal … Continue reading

Posted in Acquired bleeding | Tagged , , , | Leave a comment