Test Description

Hemophilia is a rare, inherited bleeding disorder characterized by the deficiency of specific clotting factors, leading to prolonged bleeding.

The two main types are Hemophilia A, caused by a deficiency in factor VIII, and Hemophilia B, resulting from a deficiency in factor IX.

Both conditions are X-linked recessive, primarily affecting males, although females can be carriers and may experience symptoms.

 Haemophilia gene analysis is a gene test designed to identify

Haemophilia gene analysis is a  mutation in the F8 and F9 genes, which are responsible for Hemophilia A and B, respectively.

These X-linked recessive disorders are characterized by deficiencies in clotting factors, leading to prolonged bleeding episodes.

The analysis can detect over 3,000 known variants that cause these conditions, allowing for precise diagnosis and management.

Indications of the Test

The test is indicated for:

• Individuals with a family history of hemophilia.
• Patients exhibiting symptoms of bleeding disorders.
• Carriers seeking to understand their genetic status, especially women who may pass the gene to offspring.
• Prenatal testing for at-risk pregnancies.

Individuals with hemophilia often present with:

• Easy bruising and frequent nosebleeds.
• Prolonged bleeding after injuries or surgeries.
• Spontaneous bleeding, particularly in severe cases, which can manifest as joint (hemarthroses) and muscle bleeding.

Symptoms may vary based on the severity of the condition

                       Mild Hemophilia: Bleeding typically occurs only after significant trauma or surgery.

• • Moderate Hemophilia: Bleeding can occur after minor injuries or dental work.
  • Severe Hemophilia: Spontaneous bleeding can occur, often leading to complications such as joint damage and internal bleeding.

Diagnosis

Diagnosis involves several steps:

1. Clinical Evaluation: A thorough review of symptoms, family history, and personal medical history.
2. Physical Examination: Checking for signs of bleeding or bruising.
3. Blood Tests: These tests assess clotting factor levels and how long it takes for blood to clot. Key tests include:
   • Factor assays to measure the levels of factor VIII or IX.
   • Prothrombin time (PT) and activated partial thromboplastin time (aPTT) tests to evaluate clotting function.

The severity of hemophilia is classified based on the percentage of normal clotting factor activity:

• Mild: 6-30% factor activity.
• Moderate: 1-5% factor activity.
• Severe: Less than 1% factor activity.

Patient Preparation/Instructions

Patients should:

• Consult with a healthcare provider or genetic counselor prior to testing.
• Provide a detailed family history of bleeding disorders.
• Prepare for a blood draw, as the test requires a sample of genomic DNA.

Typical Reference Values

Reference values vary based on the specific mutation identified. Generally:

• Normal factor VIII levels: 50-150% activity.
• Normal factor IX levels: 60-140% activity.
  Results indicating lower levels may suggest hemophilia A or B, depending on the gene affected.

Turnaround Time

Results are typically available within 30 days

How To Order This Test In Kenya

To order the Haemophilia gene analysis test, please click the ‘Order Test’ button and add it to your cart. This will initiate the process for your genetic evaluation.