Tag Archives: family history

Case 92 – summary

Posted on 15/04/2018 by

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 – part B

Posted on 10/04/2018 by

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 83 – summary

Posted on 26/09/2017 by

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 

Posted on 23/09/2017 by

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

Posted on 20/09/2017 by

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

Posted on 19/09/2017 by

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

Posted on 17/09/2017 by

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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