Hemophilia

Overview of Hemophilia

Haemophilia’s signs and symptoms can vary depending on the severity of the condition. In cases of mild haemophilia, symptoms may not become apparent until excessive bleeding occurs during a surgical procedure or after sustaining a significant injury.

Conversely, individuals with severe haemophilia may experience frequent episodes of spontaneous bleeding without any apparent cause. Common signs and symptoms include:

• Bleeding into joints: This can cause swelling, pain, and redness, and if left untreated, may lead to chronic joint damage.
• Unusual bleeding after injury or surgery: Prolonged bleeding that is difficult to stop is a hallmark of haemophilia.
• Blood in urine or stool: This may occur due to bleeding within the urinary or gastrointestinal tract.
• Easy bruising: Large, deep bruises may form after minor injuries.
• Nosebleeds without a clear reason: Frequent nosebleeds, often without any apparent trigger, can indicate a bleeding disorder.
• Bleeding after vaccinations: Prolonged oozing of blood following an injection or vaccination.

→ When to See a Specialist?

It is crucial to seek specialist care if you or your child exhibit any symptoms associated with haemophilia, particularly if there is a family history of the disorder.

Early diagnosis and tailored management plans can significantly improve quality of life and lower the risk of complications. Consult with a qualified blood specliast if:

• There is unexplained and frequent bleeding or bruising.
• You notice a pattern of joint bleeds or swelling without a clear cause.
• There is a history of severe bleeding following surgeries or injuries.
• Discovering blood in urine or stool for reasons unrelated to common conditions like haemorrhoids.
• Bleeding episodes appear to worsen over time or become more difficult to manage.

Early intervention by a haemophilia specialist can lead to effective treatment plans, including clotting factor replacement therapy and lifestyle adjustments to prevent injury and manage symptoms.

Diagnosing haemophilia typically involves a series of blood tests designed to assess the blood’s clotting ability and to determine specific clotting factor levels. Start with a Complete Blood Count (CBC) and bleeding time tests, which provide initial insights into any irregularities in clotting.

More specific tests include the Prothrombin Time (PT) and Activated Partial Thromboplastin Time (aPTT), which measure the time it takes for blood to clot and help pinpoint deficiencies in clotting factors.

A clotting factor assay is crucial to measure the levels of particular clotting factors like Factor VIII or IX, which are commonly deficient in haemophilia A and B, respectively.

→ Drawing Inferences for Diagnosis

Specialists interpret these tests in conjunction with a patient’s clinical history and symptoms. They look for prolonged aPTT times in the absence of other bleeding disorders, which strongly indicates haemophilia. If a factor assay reveals low levels of Factor VIII or IX, a diagnosis of haemophilia A or B is confirmed, respectively.

Family medical history also plays a critical role, as haemophilia typically has a genetic basis. Gene sequencing may be used to identify mutations in the F8 or F9 genes, providing a definitive diagnosis.

→ Gold Standard Test

The gold standard for diagnosing haemophilia is the clotting factor assay. This test directly measures the activity levels of specific clotting factors, allowing precise identification of any deficiencies.

It is considered the most reliable method because it not only confirms the presence of haemophilia but also quantifies the severity, which is essential for formulating a treatment plan.

The accuracy of the clotting factor assay ensures that specialists can classify the condition as mild, moderate, or severe, facilitating targeted therapies.

→ Next Steps After Diagnosis

Upon a confirmed diagnosis of haemophilia, developing a comprehensive care plan with a haemophilia treatment centre is essential. Patients should receive education on avoiding activities that might provoke bleeding and should be equipped with an emergency action plan.

Regular prophylactic treatment involving clotting factor replacement may be recommended to prevent spontaneous bleeds. In the event of bleeds, prompt administration of clotting factor therapy is crucial.

Genetic counselling might also be beneficial for family planning. Emotional and psychological support resources should be available, ensuring patients and their families

Treatment for haemophilia primarily involves the replacement of the missing clotting factors. The mainstay of treatment is replacement therapy, which involves infusing synthetic clotting factors into the bloodstream to help control bleeding episodes and prevent complications.

There are two types of clotting factor concentrates: plasma-derived, which are extracted from donated blood, and recombinant, which are genetically engineered. Recombinant factors are more commonly used, as they reduce the risk of transmitting infections.

In addition to replacement therapy, desmopressin (DDAVP) is sometimes used in cases of mild haemophilia A, as it stimulates the body to release more factor VIII. Antifibrinolytic medications, which help prevent clots from breaking down, can also be prescribed in conjunction with other treatments.

Surgery is rarely needed, but in some cases, joint replacements may be necessary due to damage from recurrent bleeds. Advances in gene therapy are being explored as a potential future treatment to provide long-term relief by correcting the underlying genetic mutation.

→ Gold Standard Treatment

The gold standard treatment for haemophilia remains prophylactic clotting factor replacement therapy. It is considered the gold standard because it not only treats acute bleeding episodes but, when administered regularly, also prevents spontaneous bleeding, reducing long-term joint damage.

This preventative approach significantly improves the patient’s quality of life and is tailored based on the severity of the condition and individual needs.

→ Consultation for Treatment

To receive appropriate care, individuals with haemophilia should consult a haemophilia treatment centre, where a multidisciplinary team of specialists, including haematologists, nurses, physiotherapists, and social worker,s develops a customised treatment plan.

Regular follow-ups with a haematologist experienced in bleeding disorders are crucial, as they can provide guidance on the management of the condition and monitor for potential complications.

→ Prognosis of Treatment

With advancements in treatment, individuals with haemophilia can lead normal, active lives. Prophylactic therapy greatly reduces the frequency of bleeding episodes, minimizing joint damage and associated complications.

The prognosis depends on adherence to treatment protocols and the management of bleeds. Early intervention and new therapies, including ongoing gene therapy research, hold promise for even better outcomes, potentially offering improved quality of life and reduced burden of the disease.