Warning Signs Linked To Christmas Disease (Hemophilia B)

Christmas disease, also known as hemophilia B, is an uncommon genetic disorder that causes an individual to have blood that does not properly clot. The blood in affected individuals does not clot correctly due to a deficiency of clotting factor IX. Around sixty percent of all hemophilia B cases are inherited from the patient's parents. Spontaneous mutations in specific genes are thought to be the cause of the remainder of hemophilia B cases. Christmas disease almost always occurs in males because the X chromosome carries the mutation that causes it. Christmas disease is diagnosed with the use of blood tests, including a partial thromboplastin time test, prothrombin time test, and a fibrinogen test. Christmas disease cannot be cured, so treatment focuses on managing its symptoms. Preventative measures, wound treatment, and factor IX injections are used to treat hemophilia B.

Several symptoms indicate the presence of Christmas disease (hemophilia B). Get to know them now.

Prolonged Wound Bleeding

Prolonged wound bleeding describes when an individual's body takes longer than average to stop bleeding. Prolonged wound bleeding is different than the symptom of excessive bleeding. When a hemophilia B patient experiences a minor bleeding event like a nosebleed or gum bleeding, they do not always bleed more than a healthy individual. Instead, individuals with hemophilia B tend to bleed for longer. A longer duration of bleeding causes the affected individual to lose a greater quantity of blood than a healthy individual would. This prolonged bleeding occurs with minor cuts, surgical procedures, and tooth extractions. Any form of an internal wound is also known to bleed longer in hemophilia B patients. Prolonged wound bleeding becomes problematic because the loss of too much blood at a steady rate can cause the patient to become anemic or go into shock.

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Blood In Urine Or Stool

A healthy individual does not experience blood in their urine or stool when the mucosal tissues and linings become mildly inflamed. If any inflammation does cause bleeding, the body is usually able to mediate it quickly before it can be seen in the stool or urine. However, normal irritation in such tissues can pose a more significant problem for individuals with hemophilia B. The lining of the bladder can be very sensitive as well as the tissues inside the kidneys that make up the small filters. When a foreign substance or other stimuli causes these tissues to become even mildly irritated, an affected individual may bleed into their urine. When they urinate, the urine may be red, orange, or pink colored due to the presence of blood. Blood in the stool can be a common manifestation in individuals who have hemophilia B because of the numerous mechanisms that can cause inflammation of the stomach and intestinal linings. Irritation from hard stools or corrosive substances can cause these tissues to bleed, and the body takes a longer than average time to stop it. Therefore, blood may be visible in the stool of an affected individual.

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Unprovoked Bleeding

Spontaneous or unprovoked bleeding is a more frequent occurrence in hemophilia B patients than it is in healthy individuals. Unprovoked bleeding describes a symptom where an individual's tissues begin to bleed without any injury or physical contact. Unprovoked bleeding can include bleeding from the nostril, nasopharynx, or nasal cavity. Unprovoked bleeding may also include bruising or the leakage of blood from the vessels underneath the skin when there has been no physical impact on the tissues. Unprovoked bleeding also often consists of the affected individual bleeding into their joints without any physical impact or hemarthrosis. Some physicians would consider bleeding from the gums to be an unprovoked type of bleeding in patients affected by hemophilia B, even though irritation from teeth brushing can be implicated. Although unprovoked bleeding is a symptom that can indicate hemophilia Bl, it is less common in hemophilia B than it is in other coagulation disorders.

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Excessive Bleeding

An individual with hemophilia B may experience excessive bleeding under several different circumstances that would not be problematic for a healthy individual. Surgical procedures are known to cause excessive bleeding in hemophilia B patients and can be deadly if the deficiency is severe or has not yet been diagnosed. It is not uncommon for an affected individual to bleed a larger quantity of blood than a healthy individual following a dental procedure like a tooth extraction. Many cases of hemophilia B are diagnosed shortly after birth, as an affected individual may bleed excessively from the umbilical cord and or umbilical area upon their delivery. Excessive bleeding can occur in individuals who have hemophilia B when their first teeth begin to erupt in infancy. In terms of accidental injury or trauma, hemophilia B patients tend to bruise and bleed from injury and or trauma to a greater extent than healthy individuals. Injury or trauma to an affected individual's head can be extremely problematic and life-threatening due to the risk of brain hemorrhage and pressure that excessive amounts of blood places on brain tissues.

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Joint Pain And Swelling Caused By Internal Bleeding

Joint pain and swelling caused by internal bleeding usually do not manifest in hemophilia B patients until they reach their childhood years. The reason for this delayed onset is attributed to the increase in an affected individual's activity level as they advance from a toddler to a small child. Hemarthrosis describes the leakage of blood into the area that houses the connections between two bones. This symptom can be hard to detect until the child begins to complain about aching, tingling, or bubbling feelings in their joint. The joint in the affected individual may exhibit redness, swelling, stiffness, excessive bruising, pain, warmth, and reduced range of motion. Healthy individuals do not usually experience this type of bleeding in the absence of trauma, injury, surgery, certain medications, certain infections, osteoarthritis, and cancer. However, hemophilia B patients can bleed into their joints even with minor tissue irritation.