The characteristic feature of haemophilia is excessive bleeding, i.e. bleeding that takes longer to stop. In addition, in people with haemophilia, bleeding is easier and more frequent than in the rest of the population.

Depending on the severity of haemophilia, bleeding can occur due to an injury (severe or minor), a surgery, a dental operation, or even without an obvious cause (that is, the individual cannot determine the reason that caused the bleeding). In the latter case this is called a spontaneous bleed. Spontaneous bleeding can occur in people with moderate and severe haemophilia.

People with bleeding disorders experience external and internal bleeds:

External bleeds, can occur in the mouth, after biting the mouth, lips or tongue. Recurrent, heavy nosebleeds, or epistaxis, without apparent cause is another symptom. Minor cuts that do not clot or that stop bleeding and then start again can occur.

Internal bleeds, occur inside the body and are not visible. The most frequent sites of internal bleeds are the the knee, ankle, elbow and hip joints. However, they can occur in any part or organ of the body, such as the gastrointestinal tract, urinary tract or head.

Special blood tests or genetic testing diagnoses haemophilia:

Since haemophilia is, in most cases, inherited from the mother to her son, family history is the key element that drives parents of a newborn boy to undergo diagnostic tests. If there is no family history, the point that leads parents to diagnosis of haemophilia is the frequent occurrence of bleeding episodes in the first months or early years of a child's life.

Specifically, a series of blood tests are performed to diagnose haemophilia, which measure the following parameters:

platelet count

blood clotting time

prothrombin time (PT)

activated partial thromboplastin time (aPTT)

Diagnosis is confirmed by specific tests that measure levels of factor VIII or factor IX in the blood.

The second diagnostic method for haemophilia is the genetic testing that identifies and characterizes the specific mutation responsible for haemophilia. Genetic testing can also be done before childbirth, by amniocentesis or chorionic villus sampling.

In addition, a female can find out if she is a haemophilia carrier by performing a factor VIII or IX level measurement test or the specific genetic test.

The most common manifestations of haemophilia and the symptoms that characterize them are:

Bleeding into the joints (hemarthrosis)
It is the most common manifestation of internal bleeding; including bleeding in the muscles, because these areas are "strained" more during one's daily life. Typically, the joints of the elbow, knee and ankle (Tibiotalar join) are affected while the joints of shoulder, hip and finger can also be affected. Bleeding in the joint is signaled by the feeling of "pinching" or "tickling" at that area. As the bleeding continues, the area may become sore and warm to the touch and present edema (swelling). As the same joint can be repeatedly affected over the course of a person's life, the joint can be damaged over time (hemophilic arthropathy).

Bleeding into the muscles
If a vessel of muscle tissue bleeds, a large bruise or hematoma, accompanied by pain or edema, may occur at the site. The spot can also be warm to the touch and the skin may appear smoother. In some cases, the person may feel numbness on the area as the edema presses on an adjacent nerve or may not be able to move the joint that the relevant muscle normally moves.

Oral bleeding
Bleeding gums are common in infants and young children during tooth replacement. They also occur after tooth cleaning or other dental procedures.

Nosebleeds
It is more common in children.

Bleeding from the gastrointestinal tract

Vomiting blood or blood in stools are typical indications of such bleeding.

Bleeding from the urinary tract

The main symptom is the presence of blood in the urine (hematuria). In this case, the urine color is red or brown.

Intracranial hemorrhage (bleeding into the brain or the skull)
Symptoms include headache, nausea, vomiting, drowsiness, or seizures. It is the most serious form of internal bleeding, as it can be particularly life threatening.

Menorrhagia
Women with haemophilia may have heavy blood flow during menstruation.

Because in an infant or toddler, it is not always easy to recognize the occurrence of an internal bleed, the child's parents or carers should carefully observe changes in their behavior and monitor for signs of bleeding in their body.

Learn more

People with haemophilia show increased frequency and duration of bleeding episodes compared to the general population.

Watch how the knee joint works and how a hemarthrosis is formed

References:

1.Srivastava A, Santagostino E, Dougall A, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020: 26(Suppl 6): 1-158. https://doi.org/10.1111/hae.14046

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This information is intended to inform and update the public and may in no way serve as a substitute to consultation with a doctor or other professional health service.

M-SG-00000340-06-2021