Lab Tests for Hemophilia

Introduction

The laboratory testing of hemophilia is a very crucial factor as it identifies the type, the complications associated with it, the symptoms, and the specific treatment indicated for its type. As hemophilia is a very tricky condition and needs careful monitoring, there are multiple specific laboratory tests available that are particularly indicated for patients who are showing chances of being hemophilia positive. This is because, while hemophilia is genetic, it is mostly latent and is passed down by the carrier men to the females; hence, the diagnosis of this condition is often missed. So, in order to differentiate and precisely identify, these tests are indicated. These tests are performed in the laboratory by trained medical professionals in a guided environment.

What Is Hemophilia?

Hemophilia is an uncommon genetic condition characterized by a lack of clotting factors in the body, allowing the blood to flow profusely. The condition occurs as a result of the absence of clotting factors 8 and 9. This genetic condition is linked to the x-chromosomes and is seen mostly in women, where men serve as genetic carriers.

What Are the Types of Hemophilia?

However, clinically, there are different types of hemophilia, and they are:

• Hemophilia A (Classic Hemophilia): This kind of hemophilia is characterized by a deficiency or reduction in clotting factor VIII.

• Hemophilia B (Christmas Disease): This is a disorder that is caused by a deficiency or reduction in clotting factor IX.

Although these are the two major types depending on the genetic modifications, there are a few other subtypes associated with them, which are very uncommon.

What Is the Significance of Performing Tests for Hemophilia?

Hemophilia is a clinical condition, which, although is genetic, is also seen in other people without genetic predisposition. The significance of conducting these tests for hemophilia are:

• To assess the bleeding time.

• To detect the prothrombin time and clotting time.

• To differentiate the type of hemophilia based on the type and severity of the condition.

• It helps in planning the treatment based on the type.

• It helps in educating the patient regarding the condition and provides genetic counseling.

• Allows the patient to prepare themselves for emergency management.

• It helps in improving the quality of life.

• It is useful in research and trials that are used to study the condition and ways to solve it.

What Laboratory Tests Are Done for Hemophilia?

In the diagnosis of hemophilia, both screening and clotting factor tests are carried out. Screening tests are blood tests that assess if the blood clots are normal or not. The clotting factor tests, also known as factor assays, are required to diagnose a bleeding disorder. The type and severity of hemophilia are determined by the results of these tests. The tests conducted are:

• Clinical Examination and Through Case History: The process of clinically examining the patient includes both medical and physical examination of the patient, as well as a review of previous medical records. This provides the physicians with an in-depth comprehension of the individual's general medical problems, making it easier for the medical professionals to treat the patient.

• Family History: As hemophilia is a condition resulting from familial history, it is necessary to know any previous history of bleeding, even after surgery or trauma, as well as any inexplicable deaths of brothers, sisters, or other relatives such as maternal uncles, grandfathers, or cousins.

• Blood Tests: Blood studies play an important role in establishing the diagnosis of hemophilia, and they are:

  • Complete Blood Count (CBC): This is a very common blood test done to detect the amount of hemoglobin (the red pigment found inside red blood cells that transports oxygen), the size and number of red blood cells, and the number of different types of white blood cells and platelets in it. The CBC is normal in hemophilia patients. However, if a person with hemophilia bleeds excessively or for a lengthy period of time, the hemoglobin and red blood cell count may be low.

  • Prothrombin Time (PT) Test: This test determines how long it takes blood to clot. It primarily assesses the clotting ability of factors 1, 2, 5, 7, and 10. If any of these components is lacking, blood clots more slowly than usual. This test is likely to show normal findings for the vast majority of patients with hemophilia A and B.

  • Activated Partial Thromboplastin Time (aPTT) Test: This test helps in measuring the time taken for blood to clot. It evaluates the ability of factors 8, 9, 11, and 12 to clot. When one of these clotting factors is missing, the blood clots more slowly than usual. The results of this test will show that those with hemophilia A or B have a slow clotting time.

  • Clotting Factor Tests: A clotting factor is a protein present in the blood that helps to prevent bleeding. Clotting factor tests, also known as factor assays, are required to diagnose a bleeding disorder. The type and severity of hemophilia are determined by this blood test. Understanding the kind and severity is crucial for developing the best treatment strategy. The severity levels are given in the table below based on clotting factor levels.

  • Fibrinogen Test: A fibrinogen assay also helps physicians determine the patient's capacity to produce a blood clot. The procedure can be performed along with other blood clotting investigations when either one or both the prothrombin and activated partial prothrombin test (aPPT) results appear abnormal. The clotting factor I of the clotting cascade is known as fibrinogen.

• Genetic Testing: The test for assessing the genetic component is conducted to confirm the presence of any particular gene mutation that causes hemophilia in an individual. This is especially useful in recognizing carriers and providing accurate genetic counseling.

• Assessing Level of Severity: After diagnosing the presence of hemophilia, the severity of the condition is classified using the level of the clotting factor, and they range from:

1. Mild: When the factor levels range between five percent and 40 percent of normal.

2. Moderate: Factor levels are moderate when they range between one percent to five percent of normal.

3. Severe: It is considered severe when the factor levels are fewer than one percent of normal.

Conclusion

In conclusion, the diagnosis of hemophilia is a careful procedure that includes a collection of the patient's medical history, a physical examination, and targeted blood tests to help in determining the levels of the clotting factors present in the blood, being factor VIII or IX. In order to diagnose hemophilia A or B, the levels of low clotting factors must be determined. This is achieved by combining a number of investigations. Once an issue has been identified, the severity of the problem is determined in order to plan the desired treatment. A very precise diagnosis is important for personalized treatments, reducing complications, followed by genetic counseling, and improving the life quality of the patients. Early identification is important for providing the appropriate medications and thereby improving the health of hemophilic patients.