Haemophilia
Association of Lesotho
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HAEMOPHILIA

 

Hemophilia is a genetic bleeding disorder characterized by a deficiency in clotting factors, vital for blood coagulation. It is inherited, which means it is passed down from parents to their children through their genes. Specifically, the condition is caused by mutations in the genes responsible for producing clotting factors, which are proteins that help blood form clots to stop bleeding. People with hemophilia either lack or have low levels of these clotting factors. As a result, their blood cannot form clots as quickly or effectively as it should.

However, it’s important to understand that individuals with hemophilia don’t bleed more easily or faster than others; rather, they experience prolonged bleeding when an injury occurs. This means that while the initial bleeding might not be more severe than in someone without hemophilia, it lasts longer and may become harder to control.

The Blood Clotting Process

To better understand hemophilia, it’s helpful to know how normal blood clotting works. When you get a cut or injury, your body triggers a series of steps called the “clotting cascade.” Blood vessels constrict to minimize blood loss, platelets form a plug at the site of the injury, and clotting factors work together to stabilize the clot and stop the bleeding. In people with hemophilia, certain clotting factors are missing or deficient, meaning this process is disrupted. As a result, even though the body may start the clotting process, it is incomplete and can’t fully stop the bleeding.

 Misconceptions About Hemophilia

A common misconception is that people with hemophilia bleed excessively from minor cuts or scrapes. In reality, external bleeding from small injuries is generally not the primary concern for individuals with hemophilia. While cuts and abrasions can take longer to heal, they are usually not life-threatening. 

The most dangerous and serious consequence of hemophilia occurs when bleeding happens internally. Internal bleeding is much harder to control and can be more difficult to detect. This is because it may occur in deeper tissues or inside organs. The most commonly affected areas are the joints—especially the knees, elbows, and ankles—where repeated bleeding can cause long-term damage and pain. Hemophiliacs may also experience bleeding in muscles, which can lead to swelling and severe pain. 

The most life-threatening form of internal bleeding occurs when blood leaks into vital organs such as the brain, leading to what is known as a “hemorrhagic stroke.” Brain bleeds can cause permanent neurological damage or even be fatal if not treated immediately.

Types of Hemophilia

1. Hemophilia A (Classical Hemophilia):  

   This is the most common type of hemophilia, accounting for about 80% of all cases globally. It is caused by a deficiency of clotting factor VIII (8). Factor VIII plays a central role in the clotting process, and its absence or insufficient production prevents the blood from clotting properly. People with Hemophilia A may experience mild to severe symptoms, depending on how much factor VIII is missing or impaired. In severe cases, spontaneous internal bleeding can occur even without any obvious injury.

2.Hemophilia B:  

   Hemophilia B is less common, representing around 15-20% of hemophilia cases across the globe. This type is caused by a deficiency of clotting factor IX (9). Like Hemophilia A, the lack of factor IX interferes with the clotting process and leads to prolonged bleeding. The name “Christmas Disease” originates from the case of a patient named Stephen Christmas, who was diagnosed with the condition in 1952. 

 Hemophilia Severity

The severity of hemophilia can vary widely from person to person, depending on how much of the clotting factor is missing or dysfunctional. The condition is typically categorized as:

Mild Hemophilia: People with mild hemophilia usually have enough clotting factor to prevent excessive bleeding from everyday injuries. However, they may still experience significant bleeding after more serious trauma or surgery.

Moderate Hemophilia: Individuals with moderate hemophilia may experience spontaneous bleeding or bleeding after relatively minor injuries. The severity can vary, and medical intervention is often necessary to stop bleeding.

Severe Hemophilia: Those with severe hemophilia have very little or no clotting factor in their blood. Spontaneous internal bleeding, particularly into joints and muscles, is a common problem. Severe hemophilia requires regular medical treatment and preventative care to avoid life-threatening bleed

Hemophilia is a genetic disorder caused by a gene that doesn’t work properly, affecting the blood’s ability to clot. Like other genetic conditions, it can be passed down from parents to children. In most cases, the gene responsible for hemophilia is inherited at the time of conception.

However, in about 30% of cases, a boy may be born into a family with no history of hemophilia. This can happen for three main reasons:

1. Hidden Family History: Hemophilia might have been in the family for generations without anyone knowing. If no males in the family showed symptoms or if females who were carriers didn’t have sons with the condition, hemophilia might not have been recognized until a boy is born with it.

2.New Mutation in the Mother: Sometimes, the mother may develop the hemophilia-causing gene mutation for the first time. In this case, she becomes the first carrier in the family, and her sons may have hemophilia, while her daughters could become carriers.

3.Spontaneous Mutation: In rare cases, the gene mutation causing hemophilia can occur for the first time when the child is conceived. The mother is not a carrier, but a new mutation occurs in the egg. This can lead to the child having hemophilia, and other future children of the mother could also inherit the mutation.

These are the main reasons why hemophilia can sometimes appear unexpectedly in families without a known history of the condition.

         Early Signs of Hemophilia in a Young Child

1.Gum and Tongue Bleeding: Babies often bite their gums and tongue while teething, which can result in bleeding. In addition, bruising from falls is typically one of the first noticeable signs of hemophilia.

2.Bruising from Falls: During the first two years of life, children tend to experience frequent falls as they learn to walk, resulting in surface bruising. Until this age, bleeding into joints is less common.

3.Joint and Soft Tissue Bleeding: After the age of two, children with hemophilia may experience bleeding into joints, muscles, and soft tissues more frequently as they become more active.

   Symptoms of Hemophilia in Older Children and Adults

1.Joint Bleeding: Bleeding into the joints is a common symptom, particularly in the knees, elbows, ankles, shoulders, hips, and wrists, with the knees being most frequently affected.

2.Soft Tissue and Muscle Bleeding: Hemophilia can lead to bleeding in soft tissues and muscles, including areas such as the iliopsoas muscle around the hip, calf, forearm, upper arm, Achilles tendon, and buttocks.

3.Oral Bleeding: Cuts in the mouth, such as from a bitten tongue or loss of a tooth, can lead to significant bleeding, especially in children.

4.Blood in Urine (Hematuria): Presence of blood in the urine is another possible sign of bleeding associated with hemophilia.

5. Surface Bruising: Individuals with hemophilia are more prone to bruising, even from minor bumps or injuries.

These symptoms, especially in combination, should prompt further investigation and, if necessary, a diagnosis of hemophilia for appropriate management and treatment.

Bleeding in individuals with hemophilia can often be triggered by minor injuries, such as a bump or a slight twist of a joint. However, in many cases—particularly for those with severe hemophilia—bleeding can occur without any obvious cause. This is especially true for joints that have previously bled; the more frequently a joint experiences bleeding, the more prone it becomes to spontaneous bleeds in the future.

In some cases, even bleeding in the brain can occur without any clear external trigger. Brain hemorrhages are a leading cause of death in individuals with hemophilia, making it crucial to quickly recognize the signs and symptoms of a brain hemorrhage in order to seek prompt medical attention.

 Symptoms of Hemophilia-Related Bleeding

1.Bleeding in the Neck, Throat, or Tongue: Bleeding in these areas can block the airway, making breathing difficult and requiring immediate medical attention.

2.Bleeding in the Iliopsoas Muscle: This muscle runs across the front of the hip. Bleeding here can press on nerves, leading to leg weakness, pain, or difficulty moving.

3.Bleeding in the Forearm or Calf: Bleeding in these muscles can compress important nerves, affecting movement or sensation in the hand or foot.

4.Joint Bleeding (Knees, Ankles, Elbows): Frequent bleeds in the joints can cause long-term damage, including loss of movement, muscle weakness, and the destruction of joint tissues. Over time, this can lead to chronic pain and disability.

Symptoms of Brain Bleeding (Hemorrhage)

Brain bleeds can be life-threatening, so it’s important to recognize the symptoms early:

-Persistent or Increasing Headache: A severe, ongoing headache that worsens over time.
– Repeated Vomiting: Vomiting that doesn’t seem to improve.
-Drowsiness or Behavior Changes: A noticeable change in behavior or sleepiness that is unusual for the person.
-Sudden Weakness or Clumsiness: Weakness, numbness, or loss of coordination in one arm or leg.
-Neck Stiffness or Pain: Difficulty moving the neck, or pain when trying to do so.
-Double Vision or Crossed Eyes: Blurry or double vision, or eyes that don’t align properly.
– Poor Balance or Coordination: Difficulty walking or maintaining balance.
-Seizures: Sudden, uncontrollable shaking or convulsions.

If any of these symptoms occur, immediate medical attention is needed.

 Signs of Joint Bleeding

1.Early Stage: The first sign of a joint bleed is a feeling of tightness in the joint, with no significant pain. The joint may appear slightly swollen or puffy to the touch.

2.Progression: As the bleeding continues, the joint becomes warm and painful to move. Full extension or flexion becomes difficult, and the joint is visibly swollen. Weight-bearing (e.g., walking or standing) may become painful or impossible.

3.Severe Stage: The joint becomes stiff and fixed in a slightly bent position, trying to relieve internal pressure. The pain at this stage can be intense and debilitating. Movement in the joint is lost.

4. Resolution: Over several days, as the bleeding slows, the blood inside the joint is gradually absorbed. The swelling starts to subside, but the joint may remain stiff for some time. If bleeding recurs often in the same joint, long-term damage can occur, leading to arthritis and permanent loss of mobility.

Repeated joint bleeds can result in lasting damage, including deformity and chronic pain, making early detection and treatment essential to prevent complications.

Hemophilia is an inherited disorder, typically passed down through families. However, in about one-third of cases, it appears in families with no prior history of the condition. The genetic mutation that causes hemophilia is inherited from parent to child through the X chromosome.

Men with hemophilia will pass the altered gene to their daughters, but not their sons, because sons inherit their father’s Y chromosome, not the X chromosome. Women who are carriers of the hemophilia gene can pass it on to both sons and daughters. Sons who inherit the gene will develop hemophilia, while daughters will become carriers. Most women and girls who carry the gene do not show symptoms of bleeding; however, some may have a mild bleeding tendency, particularly if their factor levels are low. These women may require treatment, as they can experience bleeding episodes similar to men with hemophilia.

The diagrams below can help illustrate how hemophilia is inherited. In the diagrams, males with hemophilia are shown in red, while females who carry the gene (with one altered X chromosome and one normal X chromosome) are depicted in both red and blue.

Haemophilia Genetic Inheritance Diagram
 
 

        Key Terms in Blood Clotting and Hemostasis

-Antifibrinolytic: A substance that prevents the breakdown of fibrin, the protein that helps stabilize blood clots, ensuring clot integrity and reducing the risk of excessive bleeding.

-Autosomal: Refers to any chromosome that is not a sex chromosome (X or Y). Humans have 22 pairs of autosomes, which carry most of our genetic material, as opposed to the sex chromosomes (X and Y) that determine biological sex.

-Afibrinogenemia: A rare bleeding disorder where fibrinogen, a crucial protein for clot formation, is absent from the blood, resulting in an inability to form stable clots and an increased risk of bleeding.

-Coagulopathy: A general term for any disorder that affects the blood’s ability to clot properly. Coagulopathies can lead to excessive bleeding or poor clotting, complicating wound healing and recovery from injury.

-Dysfibrinogenemia: A condition in which fibrinogen is present in the blood but is malfunctioning or defective, impairing its ability to form a stable clot, potentially causing either bleeding or abnormal clot formation.

-Fibrinogen: A plasma protein (Factor I) produced by the liver that is essential for blood clotting. Fibrinogen is converted into fibrin during the clotting process, forming the mesh-like structure that stabilizes blood clots.

– Glycoprotein: A protein that is chemically bonded with carbohydrate molecules. These glycoproteins are important for various biological functions, including cell signaling, immune response, and in some cases, blood clotting.

-Hypofibrinogenemia: A condition characterized by low levels of fibrinogen in the blood, which impairs normal clot formation and increases the risk of bleeding. It may be congenital or acquired due to liver disease or other factors.

-Platelet: A small, disc-shaped cell fragment in the blood that plays a crucial role in clotting. When blood vessels are injured, platelets aggregate at the site of injury to form a temporary plug and release chemicals that activate the clotting cascade.

-Prothrombin: A blood protein (Factor II) produced by the liver that is converted into thrombin during the clotting process. Thrombin is essential for converting fibrinogen into fibrin, the protein that forms the clot’s structural framework.

-Thrombin: An enzyme derived from prothrombin during the clotting process. Thrombin plays a critical role by converting fibrinogen into fibrin, which helps form a stable blood clot to stop bleeding.

These terms are key components of the blood clotting process and are important for understanding various bleeding disorders, clotting abnormalities, and the body’s ability to prevent excessive bleeding or clot formation.

LETS SCREEN AND DIAGNOSE HAEMOPHILIA