The Importance of Early Diagnosis in Managing Hemophilia

Hemophilia is the condition where a person’s blood doesn’t clot. If a person has hemophilia, they bleed for a longer time. This happens due to the absence of certain blood clotting proteins. Hemophilia is almost always genetic.

Internal bleeding is a significant concern for people with hemophilia as it doesn’t stop and can damage organs and even be life-threatening. This condition has no cure, so early diagnosis is the key to successful management.

This article discusses hemophilia, its cause, diagnosis, and more.

What Is Hemophilia? 

Hemophilia is a rare genetic blood clotting disorder that causes the blood to clot less, increasing the risk of bruising and bleeding.

The primary cause of hemophilia is the absence of clotting factors. These are proteins that work with platelets to form blood clots. Since these proteins are missing in hemophilia, the blood flow in case of bleeding does not stop quickly. While minor cuts and bruises are not a significant problem, internal bleeding is which can cause organ failure and death.

There are three types of hemophilia depending on the missing or scarce clotting protein:

1. Hemophilia A: It is the most common form of hemophilia. It occurs when one doesn’t have enough specific clotting protein called factor 8 in the blood. It is also known as factor 8 deficiencyhemophilia.
2. Hemophilia B: This type of hemophilia occurs due to the scarcity of clotting factor 9.
3. Hemophilia C: This type of hemophilia occurs due to the scarcity of clotting factor 11. This is the rarest form of hemophilia.

Read more about Haemophilia in Children

What Are Hemophilia Causes? 

The primary cause of hemophilia is an absence or scarcity of specific proteins called clotting factors that aid in forming blood clots. This absence or scarcity can be either inherited or acquired.

1. Congenital Hemophilia

This type of hemophilia is inherited. Both hemophilia A and B can be congenital hemophilia.

2. Acquired Hemophilia

In this condition, a person is not born with the disorder but acquires it when their immune system attacks and destroys clotting factors in the blood (usually factors 8 and 9). Some conditions that can cause acquired hemophilia include:

1. Pregnancy
2. Autoimmune conditions
3. Cancer
4. Multiple sclerosis
5. Drug reactions

What Are Hemophilia Disease Symptoms? 

Hemophilia symptoms vary depending upon the type and level of clotting factor deficiency. These include:

1. Frequency, difficult to stop nosebleeds.
2. Bruising and bleeding into the skin.
3. Blood in urine or stool.
4. Bleeding in gums or mouth.
5. Bleeding into the joints.
6. Bleeding into muscle and soft tissue.
7. Heavy bleeding after childbirth.

How Is Hemophilia Diagnosed? 

Symptoms of mild hemophilia only occur after injury or accident, making it challenging to diagnose hemophilia until one reaches adulthood. Severe hemophilia, on the other hand, can be diagnosed right after birth.

A doctor diagnosing hemophilia begins by taking the patient’s medical history and examining signs of hemophilia, followed by a blood test.

In the blood test, the doctor takes a blood sample from the person’s vein and sends it to the laboratory to determine the amount of clotting proteins present. The severity levels of different types of hemophilia are defined as:

The severity levels of different types of hemophilia are defined as:

1. Hemophilia A

• • Mild: Factor 8 levels between 5% and 40%.
  • Moderate: Factor 8 levels between 1% and 5%.
  • Severe: Factor 8 levels less than 1%.

2. Hemophilia B

• • Mild: Factor 9 levels between 6% and 49%.
  • Moderate: Factor 9 levels between 1% and 5%.
  • Severe: Factor 9 levels less than 1%.

For people with a family history of this condition, doctors can recommend genetic testing to confirm a hemophilia diagnosis.

What Are the Complications of Hemophilia? 

Early diagnosis and treatment are critical to avoid serious complications of hemophilia, including:

1. Deep Internal Bleeding

Bleeding that occurs in deep muscles can cause the limbs to swell. The swelling can press on the surrounding nerves, leading to numbness or pain. Depending on where the bleeding takes place, it can be life-threatening.

2. Joint Damage

Unstoppable internal bleeding can increase pressure on the joints, causing severe pain. When left untreated, it can progress to arthritis and joint destruction.

3. Bleeding in the Throat and Neck

Bleeding in the Throat and neck can affect one’s ability to breathe correctly.

4. Reaction to Hemophilia Treatment

In some individuals with severe hemophilia, the immune system can attack the clotting factors used to treat the condition. This reduces the efficacy of the hemophilia disease treatment.

Hemophilia is incurable. However, early diagnosis and proper hemophilia treatment can help patients lead normal lives and avoid serious complications. Upon noticing hemophilia symptoms given here, one must consult a doctor and get tested at Dr Lal PathLabs.

FAQs 

1. When is World Hemophilia Day celebrated?

World Hemophilia Day is globally celebrated on 17 April.

2. What is the genetic disorder hemophilia?

Hemophilia disease is a condition where a person’s blood doesn’t clot easily.

3. Can hemophilia go away?

Hemophilia doesn’t go away. However, treatment can help improve symptoms.

4. Can one live a full life with hemophilia?

With timely diagnosis and proper treatment, many people with hemophilia can live regular lives almost as long as people without this disorder.