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What is Christmas Disease?

Christmas Disease, also known as Hemophilia B, is a rare genetic disorder that impairs blood clotting. Caused by a deficiency of Factor IX, it can lead to excessive bleeding even from minor injuries. Through vivid imagery, we'll explore its symptoms, treatment, and the courageous stories of those affected. How might understanding this condition change the way we view everyday bravery? Continue with us to uncover more.
Lynndee Molyneaux
Lynndee Molyneaux

Hemophilia B is sometimes referred to as Christmas disease because a young boy named Stephen Christmas was the first patient that was recognized to have this form of hemophilia. There are several types of hemophilia and all are diseases that cause problems with blood clotting. Christmas disease is characterized by insufficient amounts of a blood-clotting plasma protein called factor IX. It is a hereditary condition caused by a recessive gene on the X chromosome; females who have another X chromosome that is likely to prevent the recessive gene from expressing, may therefore be carriers of this disease and not exhibit any symptoms. Hemophilia B is much more prevalent in males who do not have a second X chromosome to protect them from the recessive gene that causes it.

Women who are carriers of the recessive gene that causes Christmas disease have a 50-percent chance of passing the gene on to both their sons and daughters since they contribute one X chromosome to their children. Boys who inherit the gene from their mothers will always have the disease because the Y chromosome does not prevent the gene from expressing. A boy cannot inherit the disease from his father since he only receives a Y chromosome from his father. Girls inherit an X chromosome from both their mothers and their fathers, so they will develop the disease only if they inherit the gene from both parents, and will simply be carriers if they inherit the gene from only one parent. Women with hemophilia B will always pass the gene on to their children since both of their X chromosomes have the gene, and men with hemophilia B will always pass the gene on to their daughters since their only X chromosome carries the gene.

Contracting hepatitis B is a risk associated with Christmas disease.
Contracting hepatitis B is a risk associated with Christmas disease.

The severity of Christmas disease usually depends on how much factor IX is present in the blood. If levels of factor IX are extremely low, patients may experience spontaneous bleeding for no apparent reason. Patients whose levels are slightly to moderately low may bleed excessively only following injury or surgery. Symptoms of severe hemophilia are generally easier to detect and typically include heavy bruising, swollen or painful joints, bloody urine or stool, nosebleeds, and prolonged bleeding following trauma or injury. People with mild hemophilia may not exhibit symptoms until undergoing a dental procedure or surgery that causes profuse bleeding.

Individuals with hemophilia are advised against donating blood.
Individuals with hemophilia are advised against donating blood.

Christmas disease is treated by supplementing a patient's blood with factor IX concentrates. These concentrates may be administered at home on an as-needed basis whenever a patient begins to bleed, or they may be prescribed by physicians and dentists prior to certain procedures to prevent heavy bleeding. People who have severe hemophilia B may need to be treated with factor IX concentrates regularly as a preventative measure.

Excessive bleeding may make the radial pulse virtually undetectable.
Excessive bleeding may make the radial pulse virtually undetectable.

With treatment, people afflicted with Christmas disease generally can lead relatively normal lives. There is some risk of health complications caused by excessive bleeding, however, including joint damage and intracerebral hemorrhage. Other risks associated with Christmas disease include contracting hepatitis B due to frequent exposure to blood products, developing thrombosis following treatment, and developing inhibitors of factor IX which can render treatment ineffective.

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Discussion Comments

anon334636

My name is Nancy and I am from Beech Bluff, Tennessee. I didn't really know that much about Christmas Disease until I read this article, and I still have a few questions about it.

BioNerd

With these kinds of blood diseases, it is important to avoid physical labor that could cause bleeding. Hemophiliacs are best off if they find a living that requires them to do minimal physical work and avoid accidents at any cost.

BostonIrish

The royal family of England is reported to have had a high frequency of hemophilia due to inbreeding. This means that their skin was literally quite delicate and that bleeding would have an excessively negative impact on them.

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    • Contracting hepatitis B is a risk associated with Christmas disease.
      By: alexskopje
      Contracting hepatitis B is a risk associated with Christmas disease.
    • Individuals with hemophilia are advised against donating blood.
      By: Gina Sanders
      Individuals with hemophilia are advised against donating blood.
    • Excessive bleeding may make the radial pulse virtually undetectable.
      By: joshya
      Excessive bleeding may make the radial pulse virtually undetectable.
    • Women who are carriers of the recessive gene that causes Christmas disease have a 50 percent chance of passing the gene on to both their sons and daughters since they contribute one X chromosome to their children.
      By: Monart Design
      Women who are carriers of the recessive gene that causes Christmas disease have a 50 percent chance of passing the gene on to both their sons and daughters since they contribute one X chromosome to their children.
    • Hypnotherapy may be used to treat hemophilia.
      By: James Steidl
      Hypnotherapy may be used to treat hemophilia.
    • Bloody urine may be a sign of severe hemophilia.
      By: tomschoumakers
      Bloody urine may be a sign of severe hemophilia.
    • Christmas disease is a hereditary condition caused by a recessive gene on the X chromosome.
      By: 3dvin
      Christmas disease is a hereditary condition caused by a recessive gene on the X chromosome.