• Sun. May 1st, 2022

Hemophilia and its symptoms, causes, risk factors, and complication

Clotting/ Bleeding disorders

Hemophilia

Hemophilia is a rare disorder in which the blood does not clot in a common way because it does not have enough clotting proteins (clotting factors). If you have hemophilia, bleeding may occur long after the injury than if your blood is clotted properly.

Hemophilia is almost always a genetic disorder. Treatment involves the regular replacement of the specific clotting factor that is reduced. Newer therapies that do not contain clotting factors also are being used.

Symptoms

Symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is slightly reduced, you might bleed only after surgery or trauma. If your defect is severe, it can easily bleed for no apparent reason.

Symptoms of spontaneous bleeding include:

  • Unexplained and excessive bleeding after cuts or injuries, or after surgery or dental work
  • Large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling, or tightness in your joints
  • Blood in your urine or stool
  • In children, unexplained irritability
  • Nosebleeds without a known cause

Bleeding into the brain

Some people with severe hemophilia may experience a simple bump on the head and bleeding in the brain. It rarely happens, but it is one of the most serious complications that can occur. Symptoms include:

  • Painful, prolonged headache
  • Repeated vomiting
  • Sleepiness or laziness
  • Double vision
  • Convulsions or seizures
  • Sudden weakness or clumsiness

Causes

When a person bleeds, the body generally pools blood cells together to form a clot to stop the bleeding. Coagulation factors are proteins in the blood that work with cells called platelets to form blood clots. Hemophilia appears when a clotting factor is missing or levels of the clotting factor are low.

Congenital hemophilia

Hemophilia is typically inherited, meaning a person is born with the disorder (congenital). Congenital hemophilia is characterized by a low blood clotting factor

The most common type is hemophilia A, associated with low-level factor 8, and the next most common type is hemophilia B, which is associated with low-level factor 9

Acquired hemophilia

Some people develop hemophilia without a family history of the disorder. This is called acquired hemophilia.

Acquired hemophilia is a variety of conditions that appears when a person’s immune system attacks clotting factor 8 or 9 in the blood. It can be associated with:

  • Cancer
  • Multiple scler
  • Pregnancy
  • Autoimmune conditions
  • osis
  • Drug reactions

Hemophilia inheritance

In the most common types of hemophilia, the wrong gene is located on the X chromosome. Everyone has 2 sex chromosomes, one from each parent. Women inherit the X chromosome from the mother and the X chromosome from the father. Men inherit the X chromosome from the mother and the Y chromosome from the father

This means that hemophilia almost always appears in boys and is passed from mother to son through one of the mother’s genes. Most women with the defective gene are carriers who have no symptoms of hemophilia. But some carriers can have bleeding signs if their clotting factors are moderately decreased.

Risk factors

The biggest risk factor for hemophilia is having family members who also have the disease. Men are more likely than women to develop hemophilia.

Complications

Complications of hemophilia can include:

  • Deep internal bleeding. Bleeding that appears in deep muscles can cause the limbs to swell. Inflammation can compress the nerves and lead to numbness or pain. Depending on where the bleeding appears, it could be life-threatening.
  • Bleeding into the throat or neck. It can affect a person’s breathing ability.
  • Damage to joints. Internal bleeding can put pressure on the joints and cause severe pain. If left untreated, frequent internal bleeding can lead to arthritis or joint destruction
  • Infection. If the clotting factors used to treat hemophilia come from human blood, there is an increased risk of viral infections such as hepatitis C. Due to donor screening techniques, the risk is lower.
  • Adverse reaction to clotting factor treatment. In some people with severe hemophilia, the immune system reacts negatively to clotting factors used to treat bleeding. When this happens, the immune system builds up proteins that prevent freezing factors from working, reducing the effectiveness of treatment.

When to see a doctor

Seek emergency care if your child has:

  • Bleeding non-stop injury
  • Swollen joints hot to the touch and painful to bend
  • Symptoms of bleeding into the brain