Symptoms and Causes of Hemophilia B

Hemophilia B is a rare inherited blood coagulation disorder. Similar to the more common form of hemophilia A, this condition can lead to increased bleeding from even minor injuries and, in more severe cases, extensive, prolonged bleeding that can be life-threatening.

Other symptoms include easy bruising, frequent nosebleeds, and joint pain and swelling. These signs often appear in childhood, but sometimes symptoms may not appear until adulthood.

This article will review the symptoms and causes of hemophilia B.

common symptoms

Hemophilia B is caused by a genetic defect that leads to impaired production of the blood protein factor IX (or factor 9), which plays a role in blood clotting.

The symptoms of hemophilia largely depend on the amount of factor IX (FIX) in the blood. Some people may not experience their first attack until adulthood, while others don’t notice symptoms during infancy or childhood.

Early symptoms of hemophilia B in infancy include:

  • Muscle bleeding and deep bruising, sometimes first discovered after routine vitamin K injections after birth
  • Prolonged bleeding after baby’s heel is punctured to draw blood for newborn screening test
  • Prolonged bleeding after circumcision (surgical removal of the foreskin from the penis)
  • Using a vacuum cleaner or forceps during labor, or bleeding into the scalp or brain after a difficult labor in general

The most common symptoms in children and adults are hemoarthrosis, which is bleeding that occurs in the joint spaces of the knees, elbows, ankles, shoulders, wrists, and hips. This can cause joint pain and swelling.

Other general symptoms of hemophilia B that may appear later in life are:

  • Bleeding from joints or muscles, causing pain and swelling
  • Unusual bleeding after injury or surgery
  • easy bruising
  • frequent nosebleeds
  • blood in urine or stool
  • Bleeding after dental surgery
  • unexplained bleeding events

complication

Bleeding from hemophilia B affects the body’s internal organs and can lead to serious complications and organ damage if left untreated. Organs that may be affected include:

  • Digestive system, causing bleeding in the stool
  • kidneys, causing blood in the urine and potential kidney damage
  • Lungs, which cause hemoptysis (coughing up blood) and difficulty breathing
READ ALSO:  New and Upcoming Treatment Options for Primary Myelofibrosis

Seek medical attention as soon as possible if you have unusual bleeding in your stool, urine, or phlegm.

Intracerebral hemorrhage (intracerebral hemorrhage) is the most immediately life-threatening complication of hemophilia B, occurring in 1%–4% of cases.

This complication is most common in critically ill patients and may initially present with symptoms such as headache, vomiting, neck stiffness and lethargy. However, it may be silent and only detectable by conventional imaging. If left untreated, intracranial hemorrhage can lead to chronic neurological dysfunction and even death.

When to see a healthcare provider/go to the hospital

For people with hemophilia B and their families, recognizing signs of bleeding in children, addressing school problems, finding a workplace, and learning how to manage bleeding symptoms can be difficult.

If an adverse event occurs, working closely with your healthcare team and understanding the signs and symptoms to look for can speed up your decision-making. It can also ultimately help you or your child avoid medical complications.

Some ominous signs of bleeding you might want to look for are:

  • Spontaneous abdominal pain that doesn’t go away with eating
  • random back or abdominal pain
  • Swollen muscles or joints, especially elbows, knees, and hips
  • unexplained headache
  • muscle pain or contractures
  • Bleeding of any kind will not stop with the normal treatment plan your healthcare professional gives you

reason

Hemophilia B is caused by a genetic mutation in the F9 gene. Insufficient levels of functional factor IX protein may result if the F9 gene, which contains the instructions for the production of coagulation factor IX, is mutated or defective. The bleeding symptoms associated with hemophilia B arise from this deficiency.

In about 70% of cases, the genetic mutation that causes hemophilia B is inherited from the mother. The other 30% of cases arise spontaneously due to random changes in genes.

READ ALSO:  What is a blood clot?

In rare cases, it is also possible to develop acquired hemophilia B. This happens when the body produces antibodies against its own factor IX protein. Why this happens is still a mystery.

genetics

Hemophilia B is an X-linked genetic disorder, which means that genetic transmission of the disease is linked to the mother’s carrier status.

The inheritance pattern described as X-linked affects males and females differently because most females have two X chromosomes (XX), while most males have one X and one Y chromosome (XY):

  • XY males with a mutation in the hemophilia B gene have the clinical impact of this condition because they do not have another X chromosome that correctly codes for factor IX.
  • XX women with a mutation in the hemophilia B gene on one X chromosome are likely to have a healthy version of the gene on the other X chromosome, so they will not be affected by the disease or may have mild symptoms.
  • XX women who have the gene for hemophilia B on both X chromosomes will have the disease. This is very rare because two defective genes must be passed on to each parent.

A mother with hemophilia has a 50% chance of inheriting the hemophilia B gene in every pregnancy. Men with the disease will pass the mutated gene to all of their female children, but not their male children. This is because men receive a Y chromosome that does not carry the defective gene that can cause hemophilia.

Lifestyle Risk Factors

In most cases, hemophilia B is inherited from the parents, so the main risk factors are those that cannot be changed, such as a family history of bleeding disorders or being male at birth. However, you can change some risk factors to help reduce your risk of serious medical complications, such as:

  • Avoid hazards or dangerous situations that could result in injury
  • Avoid blood thinners such as heparin, Jantoven (warfarin), and Plavix (clopidogrel); and medicines that make bleeding worse, such as aspirin or Advil and Motrin (ibuprofen)
  • maintain good dental hygiene
  • Participate in regular sports such as swimming and cycling while avoiding contact sports such as football and rugby
  • Get vaccinated — and use the smallest needle possible — to protect you from infection
READ ALSO:  How to Diagnose Deep Vein Thrombosis

generalize

Hemophilia B is a rare blood clotting disorder that usually runs in families. Symptoms include excessive bleeding or bruising, even from a minor injury, bleeding from the gums or nose, and joint pain or swelling. Bleeding events and symptoms can range in severity from mild to life-threatening.

Always seek medical attention if you have any unusual symptoms or prolonged bleeding. Hemophilia B affects internal organs and the brain, and if bleeding is left untreated, complications and organ damage can result.

If you have hemophilia B, you may have inherited a genetic mutation from one of your biological parents, and your children could inherit it from you. Genetic testing can give you insight into whether you are a carrier.

VigorTip words

If you have hemophilia B, it is not uncommon to have a range of symptoms. Some people may experience no symptoms for long periods of time, while others may experience abnormal bleeding in the body for no apparent reason.

If you or your child has been diagnosed with hemophilia B, lifestyle changes, such as exercising regularly and avoiding injury-prone situations, can help reduce the risk of bleeding events. This requires you to work closely with your healthcare team so you can learn how to exercise safely, which medications are safe to take, and how to manage your symptoms if they develop.

It’s important to remember that even if you do everything right, you may still experience bloodshed and the plot is not a negative reflection of you. Call your healthcare provider or see a doctor right away if you have swollen joints, muscle pain, unexplained headache or fever, or spontaneous bleeding.