What is Haemophilia / Hemophilia?
Haemophilia is an inherited bleeding disorder where the blood doesn’t clot properly. It is caused when blood does not have enough clotting factor. A clotting factor is a protein in blood that controls bleeding.
Types of Haemophilia
There are two types of haemophilia. Both have the same symptoms.
- Haemophilia A is the most common form and is due to having reduced levels of clotting factor VIII (8).
- Haemophilia B, also known as Christmas Disease, is caused by having reduced levels of clotting factor IX (9).
Haemophilia is not contagious.
How to diagnose Haemophilia?
Hemophilia is a bleeding disorder in which blood clotting is impaired. Although the bleeding symptoms are similar in hemophilia A and B, the underlying causes are different.
A deficiency of factor VIII in hemophilia A and factor IX in hemophilia B.
Therefore, it’s important to diagnose the type of hemophilia to decide on the appropriate therapy.
If a patient has a bleeding problem, a physician first inquires about the medical history of the family. Hemophilia testing is essential for the optimal management of hemophilia. It includes a physical exam, blood screening tests, and clotting factor tests. The blood screening tests are necessary to determine the delay in blood clot formation. Clotting factor tests, also called factor assays, are required to determine the levels of clotting factors. The results of these tests reveal the type and severity of hemophilia.
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a) Family history of bleeding disorder
If there is a family history of excessive bleeding following an injury or surgery, it must be discussed with the doctor to identify the possibility of haemophilia. People with a family history may get their male newborns tested. It would be best to test for haemophilia by drawing blood from the umbilical cord immediately after birth to determine the level of clotting factors in the blood.
Umbilical cord blood testing is better at finding low levels of factor VIII because factor IX reaches its normal levels when babies are six months old. Therefore, low levels of factor IX at birth do not necessarily indicate haemophilia B.
b) No family history of bleeding disorder
About one-third of haemophilia patients have no family history of the disease. The doctor may test for haemophilia in a newborn if there is prolonged bleeding after circumcision, blood withdrawal, or delivery. In babies with haemophilia who have not been diagnosed at birth, unusual bruising may be observed during crawling. Severe haemophilia in babies is diagnosed early due to serious bleeding problems. But mild haemophilia may not be diagnosed until adulthood.
Hemophilia Screening Tests
Blood tests that are used to determine if the blood is clotting properly are called screening tests. Types of screening tests are
- complete blood count (CBC)
- activated partial thromboplastin time (APTT) test
- prothrombin time (PT) test
- fibrinogen test
Complete blood count (CBC)
This test measures the amount of haemoglobin (the red pigment that carries oxygen within the red blood cells), the size and number of red blood cells (RBCs), and the number of white blood cells and platelets in the blood. CBC results are normal in people with haemophilia, but there is a decrease in haemoglobin and RBCs in the case of heavy or prolonged bleeding.
Activated partial thromboplastin time (APTT) test
This test measures the delay in blood clot formation and the clotting ability of factors VIII, IX, XI and XII. If any of the clotting factors are too low, it takes longer for the blood to clot. Patients with haemophilia A or haemophilia B show a longer clotting time in this test.
Prothrombin time (PT) test
This test also measures the time it takes for the blood clot to form. It measures the clotting ability of factors I, II, V, VII, and X. If any of these factors are too low, it takes longer than normal for the blood to clot. The results of this test will be normal for patients with haemophilia A or haemophilia B since these conditions are caused by defects in factors VIII and IX, respectively.
Fibrinogen (also known as clotting factor I) test assesses the patient’s ability to form a blood clot. This test is performed along with other blood clotting tests or when a patient has an abnormal PT or APTT test result.
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