There is a condition called Christmas disease that affects yard of masses around the domain , but it ’s not as middling as it may vocalize . We ’re using this festive period to spread some awareness of this rare and little - known disease .
Christmas disease is also known as hemophilia B or IX hemophilia . Its name has little to do with the holiday season , instead stemming from the name of the first person to beofficially diagnosedwith the condition in 1952 , a young British boy called Stephen Christmas .
What is Christmas disease?
It describes a disorder where a someone ’s blood does not coagulate by rights , which can lead to life - threatening bleeding , but it differs subtly from classichemophilia . When you edit out , scrape , or deflate your skin , it should begin to exudate liquid blood . Very quickly , however , the blood will undergo a coagulation unconscious process that turns it into a gelatin andeventually a clot . This process involves many components , one of which is a protein call factor IX
People with the Christmas disease grow small or none of these protein because they have an inherited sport of the gene that codes for factor IX . As a result , they can experience prolonged , sometimes animation - threatening , bleeding after an injury and spite easy . They can even experience spontaneous bleeding , like nosebleeds , blood in pee , and bleeding in the marijuana cigarette .
Other forms of hemophilia , which involve other type of anti - hemophilic constituent , are more prolific with hemophilia B lay out just 15 percent of entire cases .
Is Christmas disease inherited?
Over 60 pct of cases are inherit , so the disease can run in kinfolk . doubtlessly the most noted instance of this is Queen Victoria of England ( 1837 to 1901 ) . Her youngest Word , Leopold , is now do it to have endure with hemophilia B and at least two of her five daughters , Alice and Beatrice , were carriers . Due to the incestuous “ intermingling ” of royal families in Europe at the time , the condition also line up its way into the ruling folk of Russia , Spain , and Germany during the 19th and 20th centuries .
The condition overwhelmingly mainly affects world . This is because the cistron responsible for cistron IX is run on the XTC chromosome , which Male have one of ( XY ) and female person have two of ( XX ) .
Male have a gamy hazard of being stick to with an X chromosome that does n’t carry the gene . If a female inherits a mutated factor on one of their X chromosomes , they will not develop hemophilia B as the other X chromosome can still code for some element IX . Women with the mutated X chromosome will be a carrier though and around 15 to 20 percentage of them will suffer from some mild problems with blood clotting .
Many families with a history of hemophilia choose to have their children tested too soon on , which ask a viewing test and coagulum test .
Is there a treatment for Christmas disease?
hoi polloi can be treated at time of severe bleeding with an intravenous infusion of factor IX and/or blood transfusions . However , this only leave irregular relief .
Fortunately , new treatments are on the horizon . In November 2022 , the US Food and Drug Administration ( FDA)authorizedthe first gene therapy to deal adult with hemophilia B. Dubbed etranacogene dezaparvovec ( Hemgenix ) , it ’s a one - time gene therapy that introduces the gene for gene IX using a virus .
The depicted object of this article is not stand for to be a relief for professional medical advice , diagnosis , or treatment . Always essay the advice of qualified health providers with doubtfulness you may have regarding aesculapian shape .
