Blood Flow and Veins

Haemophilia or Hemophilia is an Inherited Bleeding Disorder

Last updated on October 20th, 2022 at 08:00 am

Haemophilia is a genetic disorder where blood clots form more easily than normal. 

Haemophilia is an inherited bleeding disorder caused by a lack or deficiency of blood coagulation factor VIII or IX. Haemophilia patients must receive regular injections of clotting factors to prevent life-threatening bleeds.

Haemophilia and hemophilia are the same?

Yes, haemophilia and hemophilia are the same. But the right spelling is haemophilia and haemophilia is a genetic disorder where blood clots form more easily than normal. Haemophilia affects one out of 5,000 people worldwide. It’s a rare condition, but there are treatments available!

What is haemophilia?

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.

The 2 Types of haemophilia

There are two types of haemophilia. Both have the same symptoms.

  • Haemophilia A is the most common form and is because of 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 (source) is not contagious.

How to diagnose haemophilia?

Haemophilia is a bleeding disorder in which blood clotting is impaired. Although the bleeding symptoms are similar in haemophilia A and B, the underlying causes are different.

A deficiency of factor VIII in hemophilia A and factor IX in haemophilia B.

Therefore, it’s important to diagnose the type of haemophilia to decide on the 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 haemophilia. 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 reveal the type and severity of haemophilia.

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What causes haemophilia?

Haemophilia A and B are two types of haemophilia. They differ in their symptoms and severity.

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 show 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 because of serious bleeding problems. But mild haemophilia may not be diagnosed until adulthood.

How diagnosis haemophilia?

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Blood tests that are used to determine if the blood is clotting properly are called screening tests. Types of screening tests are:

4 Haemophilia blood tests
Complete Blood Count

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 with 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 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 test

Fibrinogen (also known as the 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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