Haemophilia

What Is Haemophilia?

Haemophilia is a medical condition in which there is an aberration in a person’s ability to coagulate blood. In layman’s terms, people who suffer from haemophilia are often referred to as having a "bleeding tendency." Haemophilia is the commonest disorder of coagulation and is an inherited condition. There are two types of Haemophilia: Haemophilia A and Haemophilia B.

Coagulation of blood is controlled by different clotting factors found in the blood, as well as blood platelets. Haemophilia A is due to a deficiency in factor VIII of the clotting factors. Haemophilia B is due to a deficiency in factor IX.

Bleeding or injury leads to the trigger of a complex clotting cascade. Platelets in the blood initially arrive at the site of injury, as an acute response to achieve haemostasis. Clotting factors are involved in the subsequent response to trauma, as platelet binding causes activation of the coagulation pathway. The coagulation cascade has two pathways, extrinsic and intrinsic, which both lead to the end goal of fibrin formation. Fibrin forms a mesh-like structure that assists blood clot formation, as other factors involved in blood clotting can adhere to this framework.

Calcium, Vitamin K and phospholipids also contribute to the clotting pathway.

The symptoms due to haemophilia may differ, depending on the severity. Some may only experience mild episodes, while others may experience life-threatening haemorrhages.

Mild haemophilia is classified when there is more than five percent of clotting factors present and active, moderate haemophilia is when there is between one and five percent of factors present, and severe haemophilia occurs when there is less than one percent of the clotting factor present.

Haemophilia is treated with factor replacement or FFPs (Fresh Frozen Plasma).

What Is Haemophilia?

Haemophilia is a medical condition in which there is an aberration in a person’s ability to coagulate blood. In layman’s terms, people who suffer from haemophilia are often referred to as having a "bleeding tendency." Haemophilia is the commonest disorder of coagulation and is an inherited condition. There are two types of Haemophilia: Haemophilia A and Haemophilia B.

Coagulation of blood is controlled by different clotting factors found in the blood, as well as blood platelets. Haemophilia A is due to a deficiency in factor VIII of the clotting factors. Haemophilia B is due to a deficiency in factor IX.

Bleeding or injury leads to the trigger of a complex clotting cascade. Platelets in the blood initially arrive at the site of injury, as an acute response to achieve haemostasis. Clotting factors are involved in the subsequent response to trauma, as platelet binding causes activation of the coagulation pathway. The coagulation cascade has two pathways, extrinsic and intrinsic, which both lead to the end goal of fibrin formation. Fibrin forms a mesh-like structure that assists blood clot formation, as other factors involved in blood clotting can adhere to this framework.

Calcium, Vitamin K and phospholipids also contribute to the clotting pathway.

The symptoms due to haemophilia may differ, depending on the severity. Some may only experience mild episodes, while others may experience life-threatening haemorrhages.

Mild haemophilia is classified when there is more than five percent of clotting factors present and active, moderate haemophilia is when there is between one and five percent of factors present, and severe haemophilia occurs when there is less than one percent of the clotting factor present.

Haemophilia is treated with factor replacement or FFPs (Fresh Frozen Plasma).

What Are The Symptoms Of Haemophilia?

Haemophilia is usually suspected when a person has a prolonged bleeding time after a minimal event such as drawing blood, teeth extraction or a superficial abrasion that doesn’t heal.  Trauma may also precipitate an abnormal bleeding response, e.g. bleed into a joint after a minor fall.

Internal or external haemorrhages range from mild to moderate bleeding episodes, depending on the severity of haemophilia that a person has. Haemophilia usually presents in childhood, and if severe, may present within the first two years of life. 

Common symptoms include:

  • Prolonged bleeding after tooth extraction, or bleeding from gums in teething infants
  • Haemarthrosis (bleeding into joints) after minor traumas. Recurrent episodes of haemarthrosis may lead to progressive destruction and deformities of joints, and eventually, secondary osteoarthritis may occur.
  • Haematomas in muscles may occur and can predispose to compartment syndrome (potential muscle and nerve cell death due to increased pressures in the soft tissue "compartments")
  • Haematuria (blood in the urine)
  • Prolonged bleeding after surgery
  • Severe bleeding episodes can lead to intracranial haemorrhage (bleeding in the brain). This may present with headaches, nausea, projectile vomiting, neurological fallouts or altered level of consciousness.
  • Gastrointestinal bleeding may lead to blood in stools

What Are The Causes Of Haemophilia?

Haemophilia is a genetic, sex-linked disorder that carried by the X-chromosomes. X-chromosome linkage implies that mainly males are affected, as they have only one X-chromosome and one Y-chromosome.

Females can be the genetic “carriers" of haemophilia, as they have two X chromosomes, and an additive healthy X-chromosome may minimise the effects of the X-gene carrying haemophilia.  It is estimated that about one-third of carrier females may have mild bleeding tendencies although most female carriers are asymptomatic. A female may have haemophilia if her mother is a carrier, and her father has haemophilia- thus receiving two abnormal X-genes.

 A mother with a carrier gene has 25% chance of affecting her son, and 25% chance of her daughter inheriting the gene.

Haemophilia A occurs in about five to ten percent of cases. Different genetic mutations give rise to haemophilia A.  Haemophilia B is more common, and occurs in eighty percent of cases.

What Are The Things One Should Do To Manage Haemophilia?

  • Maintain a healthy weight. Obesity or being overweight can worsen complications associated with haemophilia, especially secondary osteoarthritis due to recurrent intra-articular bleeds.

  • Moderate exercise to strengthen muscles and tissues around joints and ligaments is good for maintaining health but should be done cautiously, and biokinetics or physiotherapists should work out the exercise program.

What Are The Things One Should Avoid To Manage Haemophilia?

  • Be cautious before using any herbal medicine or supplement, as they often influence coagulation of blood (thinning or thickening blood)
  • Anti-inflammatory medications should be avoided due to their platelet inhibiting ability. This includes NSAIDs such as Aspirin and Ibuprofen.
  • Contact sports should be avoided due to the increased risk of bleeding into tissues.

What Are The Best Foods For Haemophilia?

  • Vitamin K containing foods such as leafy green vegetables spinach, kale, lettuce, broccoli, Swiss chard, cauliflower. Oils such as olive oil.
  • Calcium rich foods such as dairy products (milk, cheese, yoghurt, kefir), spinach, broccoli.
  • Magnesium rich foods almonds, spinach, chard, pumpkin seeds,
  • Iron rich foods (in combination with vitamin c which increases iron absorption) such as green leafy vegetables, raisins, red meat, poultry, beans and seafood.

What Are The Worst Foods For Haemophilia?

Foods that have a natural anticoagulant effect should be avoided. These include:

  • Garlic
  • Ginseng
  • Flaxseed
  • Turmeric, Cinnamon, Cayenne pepper
  • Vitamin E containing foods: Avocados, sunflower seeds, peanuts, Brazilian nuts
  • Fatty fish high in EPA, which has a mild anticoagulant effect should be used in moderation.

What Are The Medicines For Haemophilia?

What Are The Tips To Manage Haemophilia?

Supplements that decreases blood clotting and should be avoided include:

  • Gingko Biloba
  • Bromelain
  • Bilberry
  • Vitamin E-containing supplements 

What Are The Symptoms Of Haemophilia?

Haemophilia is usually suspected when a person has a prolonged bleeding time after a minimal event such as drawing blood, teeth extraction or a superficial abrasion that doesn’t heal.  Trauma may also precipitate an abnormal bleeding response, e.g. bleed into a joint after a minor fall.

Internal or external haemorrhages range from mild to moderate bleeding episodes, depending on the severity of haemophilia that a person has. Haemophilia usually presents in childhood, and if severe, may present within the first two years of life. 

Common symptoms include:

  • Prolonged bleeding after tooth extraction, or bleeding from gums in teething infants
  • Haemarthrosis (bleeding into joints) after minor traumas. Recurrent episodes of haemarthrosis may lead to progressive destruction and deformities of joints, and eventually, secondary osteoarthritis may occur.
  • Haematomas in muscles may occur and can predispose to compartment syndrome (potential muscle and nerve cell death due to increased pressures in the soft tissue "compartments")
  • Haematuria (blood in the urine)
  • Prolonged bleeding after surgery
  • Severe bleeding episodes can lead to intracranial haemorrhage (bleeding in the brain). This may present with headaches, nausea, projectile vomiting, neurological fallouts or altered level of consciousness.
  • Gastrointestinal bleeding may lead to blood in stools

What Are The Causes Of Haemophilia?

Haemophilia is a genetic, sex-linked disorder that carried by the X-chromosomes. X-chromosome linkage implies that mainly males are affected, as they have only one X-chromosome and one Y-chromosome.

Females can be the genetic “carriers" of haemophilia, as they have two X chromosomes, and an additive healthy X-chromosome may minimise the effects of the X-gene carrying haemophilia.  It is estimated that about one-third of carrier females may have mild bleeding tendencies although most female carriers are asymptomatic. A female may have haemophilia if her mother is a carrier, and her father has haemophilia- thus receiving two abnormal X-genes.

 A mother with a carrier gene has 25% chance of affecting her son, and 25% chance of her daughter inheriting the gene.

Haemophilia A occurs in about five to ten percent of cases. Different genetic mutations give rise to haemophilia A.  Haemophilia B is more common, and occurs in eighty percent of cases.

What Are The Things One Should Do To Manage Haemophilia?

  • Maintain a healthy weight. Obesity or being overweight can worsen complications associated with haemophilia, especially secondary osteoarthritis due to recurrent intra-articular bleeds.

  • Moderate exercise to strengthen muscles and tissues around joints and ligaments is good for maintaining health but should be done cautiously, and biokinetics or physiotherapists should work out the exercise program.

What Are The Things One Should Avoid To Manage Haemophilia?

  • Be cautious before using any herbal medicine or supplement, as they often influence coagulation of blood (thinning or thickening blood)
  • Anti-inflammatory medications should be avoided due to their platelet inhibiting ability. This includes NSAIDs such as Aspirin and Ibuprofen.
  • Contact sports should be avoided due to the increased risk of bleeding into tissues.

What Are The Best Foods For Haemophilia?

  • Vitamin K containing foods such as leafy green vegetables spinach, kale, lettuce, broccoli, Swiss chard, cauliflower. Oils such as olive oil.
  • Calcium rich foods such as dairy products (milk, cheese, yoghurt, kefir), spinach, broccoli.
  • Magnesium rich foods almonds, spinach, chard, pumpkin seeds,
  • Iron rich foods (in combination with vitamin c which increases iron absorption) such as green leafy vegetables, raisins, red meat, poultry, beans and seafood.

What Are The Worst Foods For Haemophilia?

Foods that have a natural anticoagulant effect should be avoided. These include:

  • Garlic
  • Ginseng
  • Flaxseed
  • Turmeric, Cinnamon, Cayenne pepper
  • Vitamin E containing foods: Avocados, sunflower seeds, peanuts, Brazilian nuts
  • Fatty fish high in EPA, which has a mild anticoagulant effect should be used in moderation.

What Are The Medicines For Haemophilia?

What Are The Tips To Manage Haemophilia?

Supplements that decreases blood clotting and should be avoided include:

  • Gingko Biloba
  • Bromelain
  • Bilberry
  • Vitamin E-containing supplements