Haemophilia: The Impact Of A Single Gene Disorder On World History

Author:Deloitte LLP

Earlier this week I was discussing our up and coming Healthcare and Life Sciences Essentials course with a new joiner Pavithra Rallapalli, known as Pavi, who recently completed her Post doctoral fellowship at University College London. Her experience was facinating and, not one to miss a chance, I asked Pavi whether she might be interested in writing a Centre blog, and if so what would she want to write about.

She replied almost immediately asking me if I had heard/read about the haemophilia B gene that Queen Victoria carried and how she, through the marriages of her children, passed the disorder to many other royal families. The genetic mutation played a role in the Russian revolutions and the fall of a number of other royal households. While I was aware of the basic facts, and had seen a number of films that alluded to the problem, I admitted that my knowledge was limited and agreed that I thought our readers would enjoy understanding more about this. This week's blog, therefore, presents Pavi's narration of Haemophilia and its role in the downfall of royal families across Europe.

Many of you may well have read or heard about Haemophilia, and the fact that it is often referred to as "the royal disease". But before I discuss the devastation it caused in royal households during the the 19th and 20th Century I thought I should explain a little about the nature and cause of Haemophilia.

Haemophilia is a rare bleeding disorder in which the blood fails to clot normally. Think of your body as controlled by a large network, with lots of small and interconnected branches/departments, headed by a single gene or a group of genes, with some lateral sense of hierarchy to maintain order. One such small, yet significant network is your coagulation cascade - A group of genes that operate together, to form clots, to prevent the loss of blood at any site of injury. Much like a 24/7 stand-by support team. When the body's protective layer is breeched by a cut, a blow, a tear, the team jumps immediately into action to deliver a fix (a blood clot).

The coagulation cascade has 14 core genes and several other extended and supporting genes. With regard to Haemophilia, there are two core genes - Factor 8 (F8) and Factor 9 (F9), both from the X chromosome. Any mutation in these two genes stops the cascading effect and stops the blood from clotting, this condition is called Haemophilia A (in the case of a dysfunctional F8 gene), and Haemophilia B (in the case of a...

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