With the holiday season upon us all, I thought it may be a good time to discuss a rather rare genetic disorder known as Christmas disease. But what on earth is Christmas disease exactly? Surly it isn’t related to too much social interaction and eating a lot of heavy food during familial winter festivities. Nope, not even close. Christmas disease, also known as hemophilia B, is a genetic disorder that prevents blood from clotting properly (Healthline). The disease is caused by a single gene mutation and typically affects about 1 in 25,000 males (National). Factor IX, which helps blood coagulate, is not produced as it should be for people with this condition. Depending on the person, the experienced symptoms can vary in severity. Some of the most common symptoms for Hemophilia B involve bruising, nosebleeds, bleeding easily and for lengthy periods of time, and spontaneous bleeds into muscles or joint spaces (Medical History Tour).

Male Bleeders vs. Female Carriers:

The gene responsible for Hemophilia B is located on the X chromosome. Males have an X and a Y chromosome while females have two X chromosomes. Because women have 2 X chromosomes, if they do inherit an X chromosome with the mutation, it is likely that their other X chromosome will still be able to produce enough Factor IX for proper blood clotting (Healthline). Women who are carriers for the gene have a 50% chance of producing a son who has Christmas disease and a 50% chance of having a daughter who is a carrier for it (Healthline). It is important to note though that some female carriers are still affected by Christmas Disease if their bodies naturally produce less IX. This means that they would still have to be careful undergoing surgical procedures and may experience excessive bleeding if injured (Healthline).

Where Christmas Came From:

Christmas disease is named after Stephen Christmas, the first known person to be diagnosed with the condition (Healthline). After being hospitalized, Rosemary Biggs and R.G. Macfarlane, experts at Oxford’s Haemophilia Centre, noticed something peculiar about Stephen. They noticed that he had no deficiency in Factor VIII which is seen in Hemophilia A patients. Unlike those with Hemophilia A, Stephen had a deficiency in Factor IX (Medical History Tour). Blood coagulation tests were conducted and he was diagnosed with Christmas disease in 1952. The British Medical Journal first described Christmas disease in their December 27, 1952 issue (Medical History Tour). At first many people thought the described disease was some kind of joke because of the name and the date of publication. 

During Stephen Christmas’ time, some of the only available treatments involved blood and plasma transfusions. Unfortunately, many people were receiving transfusions before AIDS screening was developed (Medical History Tour). Stephen contracted AIDS from treatments and died from related complications in 1993 at the age of 46 (Medical History Tour). 

Image of Stephen Christmas taken while in the hospital. Image credit: Medical History Tour.

Life Expectancy and Treatment:

Until the 1960s, the average life expectancy for males with a sever form of hemophilia as only 12 years old (National). Nowadays with advanced treatments, patients with hemophilia are expected to lead normal lives. Some common treatments involve IX injections, transfusions, and medications used to address minor injuries (Healthline). Gene therapies for Christmas disease began being developed in 2017. The future goal is to essentially find a cure for the genetic mutation so that treatments would become infrequent or unnecessary altogether.

Feel free to check out another one of my posts that focuses on the story of a man who received a hand transplant that didn’t quite work out. Click Here to read!

Until Next Time,

N.F.

Sources:

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