Hemophilia is a genetic disorder, and if there is a family history of hemophilia, it is recommended to undergo testing to determine if the gene is present. Testing is also necessary to consult on next steps, including plans for having children/offspring.

Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show whether blood clots properly. Clotting factor tests, also known as factor tests, are required to diagnose bleeding disorders. These blood tests show the type of hemophilia and its severity.

Families with a Hemophilia History

Any family history of bleeding, such as after surgery or injury, or unexplained deaths among male siblings, female siblings, or other male relatives such as maternal uncles, grandfathers, or cousins should be discussed with a doctor to see if hemophilia is the cause. A doctor will often obtain a thorough family history to determine if there is a bleeding disorder in the family.

Many people who have or have had family members with hemophilia will request that their male babies be tested immediately after birth. In the best-case scenario, hemophilia testing is planned before the baby is born so that a blood sample can be taken from the umbilical cord (which connects the mother and baby before birth) immediately after birth and tested to determine the clotting factor level. Cord blood testing is better at detecting low levels of factor VIII (8) than low levels of factor IX (9). This is because factor IX (9) levels take longer to develop and are not at normal levels until the baby is at least 6 months old. Therefore, a slightly low factor IX (9) level at birth does not always mean that the baby has hemophilia B. Retesting when the baby is older may be necessary in some cases. Learn more about the inheritance pattern of hemophilia.

Families Without a Previous Hemophilia History

About one-third of babies diagnosed with hemophilia do not have any other family members with the disorder. A doctor may check for hemophilia in a newborn if:

• Bleeding after circumcision lasts a long time.
• Bleeding lasts a long time after heel stick blood tests (pricking a baby's heel to take blood for newborn screening).
• Bleeding in the head (scalp or brain) occurs after a difficult delivery or after using special instruments to help deliver the baby (such as vacuum or forceps).

Unusual bruising or large bruises. If a child is not diagnosed with hemophilia during the newborn period, the family may notice unusual bruises once the child starts standing or crawling.

Those with severe hemophilia may experience serious bleeding problems immediately. Therefore, they are often diagnosed during the first year of life. People with milder forms of hemophilia may not be diagnosed until later.

Screening Tests

Screening tests are blood tests that show whether blood clots properly. Types of screening tests:

• Complete Blood Count (CBC)

This common test measures the amount of hemoglobin (the red pigment inside red blood cells that carries oxygen), size and number of red blood cells, and the number of various types of white blood cells and platelets found in the blood. CBC is normal in people with hemophilia. However, if someone with hemophilia experiences unusually heavy bleeding or bleeding for a long time, hemoglobin and red blood cell counts may be low.

• Activated Partial Thromboplastin Time (APTT) Test

This test measures how long it takes for blood to clot. This test measures the clotting ability of factors VIII (8), IX (9), XI (11), and XII (12). If any of these clotting factors are too low, then blood takes longer than usual to clot. The test results will show a longer clotting time among those with hemophilia A or B.

• Prothrombin Time (PT) Test

This test also measures the time it takes for blood to clot. This test primarily measures the clotting ability of factors I (1), II (2), V (5), VII (7), and X (10). If any of these factors are too low, then blood will take longer than usual to clot. The test results will be normal in most people with hemophilia A and B.

• Fibrinogen Test

This test also helps doctors assess a patient's ability to form blood clots. This test is ordered along with other blood clotting tests or when a patient has abnormal PT or APTT test results, or both. Fibrinogen is another name for clotting factor I (1).

• Clotting Factor Test

Factor testing, also known as factor assays, is required to diagnose bleeding disorders. These blood tests show the type of hemophilia and its severity. It is important to know the type and severity to make the best treatment plan.

Severity                 Factor VIII (8) or IX (9) Level in Blood

Normal                                 50% - 100%

Mild Hemophilia                 > 5% but < 40%

Intermediate Hemophilia       1% - 5%

Severe Hemophilia                  < 1%

 Author : dr. Iman Susanto (Medical doctor at Pramita Clinical Laboratory, Jl. Samanhudi No. 21 Jakarta )