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Automated algorithms for FVIII and FIX: inhibitor detection in haemophilia

The detection and monitoring of haemophilia remains a challenging process for laboratories; however, the introduction of testing algorithms is set to improve the quality and consistency of results while freeing staff time.

The condition ‘haemophilia’ was only defined in 1928, but it was first noted as early as the second century AD when a rabbi correctly identified a maternal link for sons who bled to death after circumcision. Over the past two decades, global diagnostic and treatment initiatives have seen life expectancy, and its quality, improve significantly for haemophilia patients. It is 70 years since the UK Haemophilia Society was formed, with World Haemophilia Day due to be celebrated on 17 April 2020.

Haemophilia is an X-linked autosomal recessive bleeding disorder, with haemophilia A the most common type. However, it remains a rare condition, affecting about one in every 10,000 people. Only about 20% of sufferers have haemophilia B, affecting about one in every 50,000 males. The condition normally arises from an inherited link from the mother. However, in the case of the most famous carrier, Queen Victoria, it may have resulted from a ‘spontaneous’ mutation, as her father was not affected nor were children from her mother’s earlier marriage. Carriers are generally non-symptomatic although some may have reduced plasma activity of factor VIII (below 50% [50 units/dL]) and can transmit this anomaly to their offspring.

Disease management support for UK laboratories

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Upcoming Events

POCT Innovators: The Power to Disrupt Series

Cloth Hall Court, Leeds. UK
20 March, 2024

Interpreting Reports: UK NEQAS Haematology

ONLINE
21st March 2024

USCAP 113th Annual Meeting

Baltimore Convention Center, Baltimore, Maryland, USA
23-28 March, 2024

Pathology Horizons 2024

MacDonald Bath Spa Hotel, Bath
18-20 April, 2024

Diagnostics North East Conference 2024

The Catalyst, Newcastle upon Tyne
19 April, 2024

ECCMID 2024 - European Congress of Clinical Microbiology and Infectious Diseases

Fira Gran Via, 08038 Barcelona, Spain
27-30 April 2024

Access the latest issue of Pathology In Practice on your mobile device together with an archive of back issues.

Download the FREE Pathology In Practice app from your device's App store

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