How is Haemophilia diagnosed?

How is Haemophilia Diagnosed?

Haemophilia is a rare genetic disorder that affects the blood's ability to clot properly. It is typically diagnosed through a combination of medical history, physical examination, and laboratory tests. The diagnosis process is crucial to identify the type and severity of haemophilia, which helps in determining the appropriate treatment plan.

Medical History

The first step in diagnosing haemophilia involves taking a detailed medical history of the patient. The healthcare provider will ask questions about the patient's family history, including any known cases of haemophilia or other bleeding disorders. They will also inquire about the patient's personal history of bleeding episodes, such as excessive bleeding after injuries, surgeries, or dental procedures. Gathering this information helps to establish a preliminary suspicion of haemophilia.

Physical Examination

After reviewing the medical history, a physical examination is conducted to assess any signs or symptoms of haemophilia. The healthcare provider will look for visible signs of bleeding, such as bruising, joint swelling, or prolonged bleeding from minor cuts. They may also evaluate the patient's joints for any existing damage caused by recurrent bleeding episodes. This examination helps to further support the suspicion of haemophilia.

Laboratory Tests

Confirming the diagnosis of haemophilia requires laboratory tests to measure the clotting factors in the blood. The most common tests used for diagnosis include:

• Complete Blood Count (CBC): This test measures the number of red blood cells, white blood cells, and platelets in the blood. While haemophilia primarily affects clotting factors, a CBC can help rule out other potential causes of bleeding disorders.


• Activated Partial Thromboplastin Time (APTT): APTT measures the time it takes for blood to clot. Prolonged APTT results may indicate a deficiency in clotting factors, suggesting the presence of haemophilia.


• Factor Assays: Factor assays are specialized tests that measure the activity and levels of specific clotting factors in the blood. These tests can determine if there is a deficiency or abnormality in clotting factors VIII or IX, which are typically affected in haemophilia A and B, respectively.


• Genetic Testing: In some cases, genetic testing may be performed to identify the specific gene mutation responsible for haemophilia. This test can confirm the diagnosis and provide information about the type and severity of the condition.

Consultation with a Haematologist

Once the initial diagnosis of haemophilia is made, it is essential to consult with a haematologist, a specialist in blood disorders. The haematologist will review the test results, assess the severity of haemophilia, and develop an individualized treatment plan. They may also conduct additional tests, such as imaging studies or joint evaluations, to evaluate any existing complications or joint damage caused by recurrent bleeding episodes.

Conclusion

Diagnosing haemophilia involves a comprehensive approach that includes a thorough medical history, physical examination, and laboratory tests. The combination of these diagnostic tools helps healthcare providers confirm the presence of haemophilia, determine the type and severity of the condition, and develop an appropriate treatment plan. Early diagnosis is crucial for effective management and prevention of complications associated with haemophilia.