Hemophilia, when blood does not clot Hemophilia, when blood does not clot

Hemophilia, when blood does not clot

WITH YOUR WORLD 2 February, 2018 Isabel Vallejo

In order to prevent serious complications, greater precautions should be taken with the cuts or bumps of those who live with this condition.

Medical advisor Laura Díaz, hematologist

Why does our blood clot? Put simply, this process helps prevent the body from bleeding after an accident, surgery or any type of injury. For people with hemophilia, however, even the slightest bump can turn into a very delicate situation.

While it cannot be prevented or transmitted, it can be inherited. Hemophilia is a condition that affects men more than women. According to Laura Díaz, hematologist from the Pablo Tobón Uribe Hospital, women develop the condition only in very rare cases, “This is a hereditary disorder that affects coagulation and is caused by the lack of an essential protein necessary for blood to coagulate. It is also associated to the X chromosome, which means that women are carriers, but men are the ones that will have the condition”.

To further understand this issue, the World Federation of Hemophilia (WFH) explains that the hemophilia gene is passed on from one of the parents to the child. For example, if the father has hemophilia, but the mother does not, none of the male children will develop this condition; however, all the daughters will carry the gene for it.

As Díaz clarifies, provided that women have two X chromosomes, if one is altered, the healthy one will work twice as hard, which is why women will not develop this condition. Therefore, because women who are carriers have a normal and altered copy of the gene, they can pass any of these copies onto their children. Women then have a 50% chance of passing the altered gene onto each child; and the males who inherit the gene from their mother will have hemophilia, while the females will only be carriers.

Mild, moderate and severe

While there are two types of hemophilia (hemophilia A and hemophilia B), the severity of this condition is determined by how it manifests in each patient. As Díaz points out, hemophilia A is characterized by having a factor VIII deficiency. This form of hemophilia occurs in approximately one of every 5,000 to 10,000 live births, and 60% of cases are severe. Hemophilia B has a factor IX deficiency and occurs in one of every 30,000 live births, 50% of which are moderate to severe cases.

So how can you detect it? In general, its first indications occur in childhood. If the hemophilia is mild, however, there may be no warning signs. Other situations that could spark concern include spontaneous bleeding (in the gums, for example), and bleeding after circumcision or after giving a blood sample.

With moderate to severe hemophilia, the bleeding is more obvious. When infants who have severe hemophilia are born, up to 3% can have central nervous system hemorrhages or intracranial hemorrhages. They can also experience spontaneous hematomas, which may occur in the abdomen or in the joints (known as hemarthrosis) and leave serious damage including permanent neurocognitive deficits, joint problems or limited mobility.

If the birth went smoothly and the umbilical cord did not bleed, you can begin to be concerned if child begins to experience hemostatic challenges; for example, if the impact of the knee on the floor from crawling makes the child bleed, or if they experience abnormal bleeding from the normal traumas that occur when they are learning to walk,” Díaz warns.

Helps clot

There is no cure for hemophilia. As the U.S. National Library of Medicine explains, the main form of treatment is an injection of the clotting factor that is missing in the bloodstream. This can be done periodically or when needed. Preventative treatment like this is known as “prophylaxis,” the frequency of which is determined by the type of hemophilia the patient has.

To manage the disease, it is important for the person to receive multidisciplinary care under the coordination of a hematologist and with the support of a nutritionist, sports medicine specialist, physiatrist or physical therapist, orthopedic doctor, psychologist and a dentist, “If this team of professionals can establish a common approach, the patient will be well informed and can almost lead a normal life, without restrictions to their daily activities,” Díaz indicates.

Last, to lead healthy lives, people with hemophilia should include a balanced diet and physical activity. Avoiding contact sports and competitions is suggested, as well as always using protective gear that is appropriate for the activity, and of course, always following the guidelines of a specialist in sports medicine

Hemophilia is a hereditary bleeding disorder caused by the lack of a blood clotting factor. When this factor is lacking, blood cannot clot to stop the bleeding.

How is the disorder diagnosed?

The disorder is diagnosed through a blood test that measures the deficient clotting factor. A healthy person generally has clotting factor concentrations that are greater than 40%. Depending on its severity, however, hemophilia is diagnosed according to the following indicators:

  • Mild: When the factor concentrations in the blood are lower than 40% but greater than 5%
  • Moderate: Under or equal to 5%, but greater or equal to 1%
  • Severe: Factor concentrations under 1%

1,600 people in Colombia have hemophilia A and 361 have hemophilia B, according to the Colombian Alliance for Hemophiliacs.

See also:

When blood does not clot