Symptoms

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 occurred by 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 bleeding. Spontaneous bleeding can occur in people with moderate and severe haemophilia.

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

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 and then start again can occur.

Internal bleeds, which occur inside the body and are not visible. The most frequent sites of internal bleeds are 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:

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.

ΕIn 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:

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 “ticking” 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 stool 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 bleeding, the child’s parents or carers should carefully observe changes in their behavior and monitor for signs of bleeding in their body.

Μάθετε περισσότερα

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

References:

1.WFH. Guidelines for the management of haemophilia. 2012.
Available at: http://www1.wfh.org/publications/files/pdf-1472.pdf [Accessed 24 October 2019].
2.Franchini M, Mannucci PM. Blood Rev 2013;27:179–84.
3.Berntorp E, Shapiro AD. Lancet 2012;379:1447–56.

Rationale

Therapeutic treatment