Diagnosis of hemophilia
We can diagnose Hemophilia before, during, or after birth if there is a family history of the condition.
Many choices are accessible to parents.
Mild hemophilia may be discovered later, usually after an injury or a dental or surgical intervention.
› Before pregnancy
Genetic measurement and counseling are accessible to determine the risk of transferring the disorder to a child. We examine a sample of tissue or blood to inspect marks of the genetic mutation that induces hemophilia.
› During pregnancy
A pregnant with a family history of hemophilia can examine for the hemophilia gene.
Specific examinations include
- Chorionic villus sampling (CVS): We take part of the placenta from the uterus and examine it for the hemophilia gene. We do that during weeks 11–14 of pregnancy.
- Amniocentesis: We examine a sample of amniotic fluid during weeks 15–20 of pregnancy.
We may have problems while taking samples, such as miscarriage or premature labor.
› After birth
If we suspect hemophilia in a newly born child, we can apply
a blood test to confirm the diagnosis. We can examine blood from the umbilical cord at birth if there’s a family history of hemophilia. We can identify the type of whether a hemophilia A or B and how severe it is by a blood test.
We use umbilical cord blood testing to recognize levels of factor VIII (8), not factor IX (9). Factor IX (9) takes a longer time to develop and reach a standard level at least Six Months of age. Therefore, a low level of factor IX (9) at birth does not mean that the baby has Hemophilia B.
» Hemophilia with no family history,
We can diagnose it when a child starts to walk or drag.
About one-third of babies with hemophilia have no family history.
A doctor might examine for hemophilia in a newborn if:
- Prolonged bleeding after the circumcision of the penis occurs.
- Bleeding in the scalp or brain after hard labor using instruments to deliver the baby happens.
- Large numbers of bruises appear when the child begins standing or dragging.
We can diagnose individuals with severe hemophilia during the first year of life as they suffer severe bleeding problems. We can diagnose people with milder forms of hemophilia until later in life.
Screening tests are blood tests that determine the blood clotting state and help to diagnose.
Types of screening tests:
- Complete Blood Count (CBC) usually shows natural results in patients with hemophilia. But in heavy bleeding, the hemoglobin and the red blood cell count may decrease.
- Activated Partial Thromboplastin Time (APTT): It is a test that measures the activity of factors VIII (8), IX (9), XI (11), and XII (12). The results of this test explain the longer coagulation time in patients with hemophilia A or B.
- Prothrombin Time (PT) Test:It is a test that measures the activity of factors I (1), II (2), V (5), VII (7), and X (10). The results of this test will be within the normal range in patients with hemophilia A and B.
- Fibrinogen Testmeasures the activity of fibrinogen (Factor I)
Clotting Factor Tests diagnose bleeding disorders blood, which shows the type of hemophilia and the severity of the condition, which helps to create the best therapeutic plan.
Severity
The severity of hemophilia differs according to the degree of gene mutations, which affects the factor activity.
