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Hemophilia: Causes, Symptoms, and Treatment Options

Jan 16, 2022

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Hemophilia: Causes, Symptoms, and Treatment Options

Hemophilia, an inherited bleeding disorder, is a condition that mostly affects men. While 30,000-33,000 men have hemophilia in the US, 400 babies are born with the condition every year. Though incurable, its symptoms can be treated and managed to prevent future health complications.

What Is Hemophilia?

Hemophilia is when the bleeding (after an injury or surgery) doesn’t stop in the typical way it should. Generally, proteins or clotting factors (VIII, IX, and XI) work with platelets to stop bleeding. However, hemophilia patients lack or have low levels of such proteins, thus they bleed easily and spontaneously for long periods. They are also vulnerable to internal joint bleeding, which causes swollen, painful joints.

Types of Hemophilia

  • Hemophilia A – Most common type, affecting 8 out of 10 people. It’s caused by factor VIII deficiency.
  • Hemophilia B – Also known as Christmas disease, affects 1 in every 20000 newborn males worldwide. A lack of factor IX causes it.
  • Hemophilia C – Rare, mild type caused by factor XI deficiency. Though patients don’t experience spontaneous bleeding, a hemorrhage can occur after surgery or trauma.

What Causes Hemophilia?

Hemophilia causes vary depending on whether it is congenital or acquired.

Congenital Hemophilia

People born with the condition inherit defective genes from their parents. The genes in the X chromosome instruct cells to make clotting proteins. Women have two X chromosomes, so the other can be a backup if one is affected. However, men have only one X chromosome. Any mutation in the VIII or IX gene factor can cause hemophilia. Therefore, the condition is more common in men than women.

Women can also have hemophilia, but very rarely since both X chromosomes have to be affected. Women with one defective X chromosome are ‘carriers’ of hemophilia, who may have bleeding symptoms only if their clotting factors are decreased. <./P>

Acquired Hemophilia

It occurs when your immune system attacks clotting factor VIII or IX. Its causes are:

  • Cancer
  • Autoimmune disorders
  • Pregnancy
  • Multiple sclerosis
  • Medication side effects

Hemophilia Symptoms

Symptoms depend on the severity of the clotting factor deficiency. While mild deficiency causes bleeding only after injury or surgery, a severe deficiency can cause spontaneous bleeding with symptoms, such as:

  • Tight or painful joints
  • Blood in the urine
  • Deep or large, unexplained bruises
  • Bleeding gums
  • Irritability (in children)
  • Frequent nosebleeds
  • Excessive bleeding

Hemophilia Diagnosis

Hemophilia is usually diagnosed with a blood test. Your doctor will measure the clotting factor levels in your blood sample to determine your condition’s severity.

Severity

Clotting Factor Levels

Mild

5-40%

Moderate

1-5%

Severe

Less than 1%

Hemophilia Treatment

Treatment depends on the type you are affected with.

  • Hemophilia A – Desmopressin hormone is injected intravenously to stimulate clotting factors in mild cases.
  • Hemophilia B – Donor clotting factors are either infused into your blood or given in the synthetic form to stop bleeding.
  • Hemophilia C - Plasma infusion is performed to stop excess bleeding.
  • Impacted Joints: Your doctor may recommend physical therapy if hemophilia has damaged your joints.

A hemophilia patient should exercise regularly, practice good dental hygiene, get all their vaccines on time, and avoid medications that could worsen the condition.

Have you or a loved one been diagnosed with hemophilia? Contact Chesapeake Oncology Hematology Associates today for hemophilia diagnosis and treatment or if you have any questions about any blood conditions.

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