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
Log in or register FREE to read the rest
This story is Premium Content and is only available to registered users. Please log in at the top of the page to view the full text.
If you don't already have an account, please register with us completely free of charge.