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Haemophilia in Children

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Haemophilia in children is a rare medical condition that affects blood clotting ability. Understanding its types, causes, complications, and symptoms is essential for ensuring early diagnosis and tailored treatment strategies. This article provides valuable insights into childhood haemophilia and its various aspects.

What is haemophilia in children?

Haemophilia is a rare blood-related genetic condition that affects the body’s capability to form blood clots, a process necessary to stop bleeding. This condition can lead to prolonged or spontaneous bleeding, which can occur internally within joints or muscles or externally from minor cuts or injuries.

Haemophilia in children often presents unique challenges, as frequent injuries from regular play can lead to severe bleeding episodes.

Types of Haemophilia

Haemophilia is primarily categorised into two types based on which specific clotting factor is missing or deficient in the blood:

Type A 

Type A haemophilia, the more common form, involves a deficiency in clotting factor VIII. It accounts for about 80% of haemophilia cases and varies in severity based on the level of factor VIII activity.

Type B  

Type B haemophilia, also known as Christmas disease, results from a deficiency in the clotting factor IX. It is less common than Type A but shares similar symptoms and treatment approaches.

What are the causes of haemophilia in children?

Haemophilia in children can be either congenital or acquired. Congenital haemophilia is, however, more common. The causes of the two types of haemophilia are as follows:

Congenital Haemophilia

Congenital haemophilia is inherited due to a genetic mutation in the X chromosome. Since males have only one X and one Y chromosome, a single altered X chromosome can result in haemophilia, making the condition more common in males. Females, with two X chromosomes, are typically carriers of the trait and can pass the mutated gene to their offspring.

Acquired Haemophilia

Acquired haemophilia is rare and occurs when the body’s immune system mistakenly attacks clotting factors in the blood, leading to a deficiency. This form of haemophilia can develop at any age and does not have a genetic link.

What are the complications of haemophilia in children?

The complications of haemophilia in children can be severe and life-altering. These include:

  1. Joint Damage

One of the most common complications of haemophilia in children is joint damage, which results from repeated bleeding into joints such as knees, elbows, and ankles. Recurrent bleeding can lead to chronic synovitis (inflammation of the synovial membrane) and arthropathy (joint disease), causing pain, swelling, and reduced mobility.

  1. Internal Bleeding

Internal bleeding is a severe complication of haemophilia that can occur in muscles, organs, or the brain, sometimes without an apparent cause. Bleeding within vital organs, especially the brain, poses an immediate risk and can lead to long-term health issues.

  1. Inhibitor Development 

Some children with haemophilia may develop inhibitors, which are antibodies that the immune system produces against the clotting factors used in treatment. This response can render treatment less effective or ineffective.

  1. Infections

Haemophilia in infants often exposes them to a higher risk of infections due to the transmission of viruses through blood products. This makes children susceptible to other diseases and complications.

What are the symptoms of haemophilia in children?

The symptoms of childhood haemophilia can range from mild to severe and depend on the clotting factors in the blood. Some of the common symptoms are:

  1. Excessive Bleeding: This is a hallmark symptom of haemophilia and becomes evident in infancy during routine procedures like vaccinations. Minor cuts or injuries may bleed longer than expected, making it difficult to stop.
  2. Spontaneous Bleeding: Children with haemophilia may experience spontaneous bleeding episodes without apparent cause. These episodes can occur in muscles, joints, or internal organs.
  3. Bruising: Easy bruising is another common symptom of haemophilia in children. Bruises may appear larger and more frequent than in children without the condition.

Haemophilia is a challenging condition that requires careful management to prevent bleeding episodes and their associated complications. Early diagnosis and intervention can substantially improve outcomes of haemophilia in infants and children.

FAQs

1. What are the risk factors of haemophilia in children? 

The primary risk factor for haemophilia in children is a family history of the condition. Boys are more frequently affected by the genetic transmission pattern linked to the X chromosome. In some cases, children without a family history can develop haemophilia due to spontaneous genetic mutations.

2. Can haemophilia in children be treated completely? 

Haemophilia in children cannot be cured completely, but it can be effectively managed with current treatments. Management involves regular replacement therapy with clotting factor concentrates to prevent bleeding episodes. Additionally, preventive care, such as avoiding activities that could cause injury, is essential to manage the condition.

3. How common is haemophilia in children? 

Haemophilia is a relatively rare genetic disorder. The most common type, haemophilia A, affects about 1 in 5,000 male births worldwide. Haemophilia B is less common, occurring in approximately 1 in 25,000 male births.

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