Lannoy, N.
Hermans, Cédric
[UCL]
"History may change blood. And blood can change the course of history". Hemophilia is an illustration of this, as this congenital hereditary coagulation disorder, passed through the majority of royal European families at the beginning of the 20th century by Queen Victoria of England and Empress of the Indies, had indisputable political consequences which led to one of the most defining moments of contemporary history: the Bolshevik Revolution. There are no longer any living descendents of Queen Victoria who are hemophilia carriers. Because of this, the characterization of hemophilia (deficit of either factor VIII or XI) and the identification of the causal mutation are rendered impossible. In 1991, the discovery of the first tomb, followed by the discovery of a second in 2007, containing the rests of the bones of the entire family of Czar Nicolas II allowed Russian and American scientists to fill this gap in medical history. Following a scientific approach combining current genetic experimentation tools and the development of biological information technology, each body was able to be identified, allowing precious genetic material from the young Czar Alexis, stricken by the disease, to reveal a causal substitution in the splice acceptor site of exon 4 in the F9 gene. This mutation, responsible of hemophilia B, had traumatized European royal families in the 20th century!
Bibliographic reference |
Lannoy, N. ; Hermans, Cédric. La "maladie royale" était-elle une hémophilie A ou B? Une énigme hématologique enfin résolue. In: Louvain médical, Vol. 129, no. 4, p. 111-115 (2010) |
Permanent URL |
http://hdl.handle.net/2078.1/164203 |