Christmas disease is a type of hemophilia caused by insufficient amounts of factor IX, an inherited condition that affects blood clotting. It is more common in males, but females can be carriers. Treatment involves supplementing blood with factor IX concentrates, but there are risks of health complications.
Hemophilia B is sometimes referred to as Christmas disease because a boy named Stephen Christmas was the first patient diagnosed with this form of hemophilia. There are several types of haemophilia, and all of them are diseases that cause blood clotting problems. Christmas disease is characterized by insufficient amounts of a blood-clotting plasma protein called factor IX. It is an inherited condition caused by a recessive gene on the X chromosome; females who have another X chromosome that could prevent the expression of the recessive gene, can therefore be carriers of this disease and not show any symptoms. Hemophilia B is much more common in males who lack a second X chromosome to protect them from the recessive gene that causes it.
Women who carry the recessive gene that causes Christmas disease have a 50% chance of passing the gene on to both their sons and daughters since they contribute an X chromosome to their sons. Boys who inherit the gene from their mothers will always have the disease because the Y chromosome doesn’t stop the gene from being expressed. A boy cannot inherit the disease from his father as he only gets one Y chromosome from his father. Girls inherit an X chromosome from both their mother and father, so they will only develop the disease if they inherit the gene from both parents and will simply be carriers if they inherit the gene from only one parent. Women with haemophilia B will always pass the gene on to their sons since both of their X chromosomes carry the gene, and men with haemophilia B will always pass the gene on to their daughters since their only X chromosome carries the gene.
The severity of Christmas disease usually depends on how much factor IX is in the blood. If factor IX levels are extremely low, patients may experience spontaneous bleeding for no apparent reason. Patients whose levels are mildly to moderately low may only bleed excessively following injury or surgery. Symptoms of severe hemophilia are usually easier to detect and typically include heavy bruising, swollen or painful joints, blood in your urine or stools, nosebleeds, and prolonged bleeding following trauma or injury. People with mild hemophilia may not experience symptoms until they have a dental procedure or surgery that causes heavy bleeding.
Natale’s disease is treated by supplementing a patient’s blood with factor IX concentrates. These concentrates can be given at home on an as-needed basis whenever a patient starts bleeding, or they can be prescribed by doctors and dentists before certain procedures to prevent heavy bleeding. People who have severe hemophilia B may need to be treated regularly with factor IX concentrates as a preventative measure.
With treatment, people with Christmas disease can usually lead relatively normal lives. However, there is a risk of health complications caused by excessive bleeding, including joint damage and intracerebral hemorrhage. Other risks associated with Christmas disease include getting hepatitis B from frequent exposure to blood products, developing thrombosis after treatment, and developing factor IX inhibitors that can make treatment ineffective.
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