Basics to Brilliance: Haematology Podcast
Welcome to Basics to Brilliance, the podcast created to supplement & bolster your knowledge of Haematology.
Featuring a two way, non-didactic conversational-style Q&A between the SpR and SHO, this podcast will be your pocket companion no matter where you are.
We aim to cover:
- Malignant and non-malignant topics
- Science/lab detail
- UK guidelines, hallmark trials and how these translate into clinical practice
- Future research directions
- The whole syllabus for FRCPath part 1
All readily accessible and completely free of charge!
For every budding haematologist out there, we hope this podcast aids you in your endeavours and fills you with interest and excitement for the brilliant world of Haematology.
Warmest Regards,
Dr. Everden
Dr. Fasey
Dr. Jafri
Disclaimer: This podcast is intended as a revision aid and should not be used for the medical management of patients. Guidelines in the initial episodes span 2023/2024. We aim to update our content in accordance with the most recent available guidelines when possible.
This podcast is CPD accredited by the Royal College of Pathologists UK
Basics to Brilliance: Haematology Podcast
Haemophilia A: Diagnosis & Investigations
00:52 Intro
02:00 What is Haemophilia A?
03:00 Factor VIII, Pathogenesis of Haemophilia A
07:10 Structure of Factor VIII (exam pearl)
- 300kD
- Heavy (A1 A2, B) + Light Chain (A3, C1, C2) bound by a metal ions *Calcium*
- A subunits are 30% homologous
- B subunit (variable region) is cleaved by thrombin to get Factor VIIIa
- C1 and C2 help bind to VWF
- Good to r/o VWF
10:55 Epidemiology and history taking- X-linked recessive
- Factor VIII is (mostly) feminist.....Turners syndrome, Androgen Insensitivity syndrome, Consanguinity etc. can present with HA
- Hari talks about cats
- 50% of severe haemophilia A have an Intron 22 mutation (non-coding)
- 1/3 de-novo mutations
- Amount of Factor VIII negatively correlates with severity (less VIII= more severe)
21:55 Presentation of Haemophilia A
- Spontaneous Joint and Muscle bleeds + Op bleeding
- Younger presentation = more severe
- Spontaneous ICH in baby/child inc. in birth trauma
- Think about On/Off recurrent oromucosal bleeding (can become anaemic)
30:00 Non-accidental injury in pre-mobile child- check BSH guidance**
33:35 Diagnosis
- Factor VIII < 40 IU/dL in general (units useful to think as percentages- 40%)
- Mild 6-40%
- Moderate 1-5%
- Severe <1%, presents < 2 yo and diagnosed < 4 yo
35:50 Investigations
- Bleeding and Family Hx
- FBC, PT/APTT (expect normal PT, abnormal APTT correcting with mixing studies)
- severe eg. APTT 100
- moderate eg. APTT 60-100
- Factor VIII, IX, XI , XII assay (intirnsic)
- 1 stage and 2 stage chromogenic assay
- VWF assay (antigen and activity)
- VW Factor VIII binding assay to r/o VWF 2M
- Genetic testing (HCDO)- mutational analysis. Can inform likelihood of inhibitor formation and **female carrier identification**
- Factor V and VIII can be co-inherited in an autosomal inherited pattern
*** Biggest cause of death is intracranial death ***
*** Biggest cause of disability is target joint deformation ***
47:52 Summary
'Basics to Brilliance: Haematology Podcast' has been accredited for CPD credit by the Royal College of Pathologists UK.
Medical professionals and clinical scientists holding career-grade positions, who are registered with any of the Royal Colleges for CPD, will be eligible to earn 1 credit for every hour of learning.
Email: basicstobrilliancehaem@gmail.com
Insta: BasicstoBrilliance
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