Hemophilia is an inherited disease due to an X-linked disorder that causes a deficit in blood clotting. This causes people with hemophilia to suffer hemorrhages. On the occasion of World Hemophilia Day, the specialist in Hematology and member of Top Doctors, Dr. Alcaraz Rubio offers an extensive explanation of this pathology.
What is Hemophilia
Hemophilia is an inherited disease in which a genetic alteration produces a deficit of coagulation factor VIII in the case of Hemophilia A, the most frequent (70% of the total); a deficit of factor IX for Hemophilia B (20% of the total) or the most infrequent, caused by a defect of factor XI (remaining 10%), known as Hemophilia C.
Origin of Hemophilia
People are born with hemophilia. It is a disorder that is transmitted through the genes of the parent. Hemophilia A and B genes are on the X chromosome, so it is considered an X-linked disease.
When the father has hemophilia, but not the mother, no sons will have it. However, all daughters will carry the gene. Sometimes they show signs of bleeding and can pass it on to their offspring. For each of them there will be a 50% chance of hemophilia, if male, and a 50% chance, if female, that she will also be a carrier. There is a remote possibility that, being the father a hemophiliac and the mother a carrier, her daughter will have hemophilia.
Incidence and symptoms of hemophilia
Hemophilia is a rare disease, with an incidence of 1/10,000 people for type A and 1/50,000 for type B, with type C hemophilia being almost anecdotal. Currently there are about 400,000 patients with hemophilia registered in the world, 3000 of them in Spain.
Hemophilia patients may have internal or external bleeding. Most occur in joints or muscles: knees, elbows and ankles, as well as muscles of the upper arm, forearm, psoas, thigh and calf. When bleeding from the joint is repeated, the joint may become damaged and painful. Repeated bleeding can lead to other health problems, such as arthritis with cartilage involvement, which can become chronic, resulting in joint deformity or ankylosis with loss of joint function. The intensity and frequency of bleeding depends on the degree of hemophilia involved.
Diagnosis of Hemophilia
Hemophilia is diagnosed by taking an anamnesis and clinical history, inquiring about bleeding history, both personal and family, and in case of suspicion, quantifying the amount of clotting factor and its activity. If the mother is a carrier, tests can be performed before the birth of the baby, with a sample of chorionic membrane or fetal blood.
Treatment of hemophilia
Current treatment of hemophilia is very effective, with administration of the deficient factor in the blood. Bleeding stops when a sufficient amount of factor reaches the site where it originates. Such bleeds must be addressed quickly to reduce damage to the joint, muscle or organ.
Among the treatment options available, factor concentrates are the preferred therapy. They can be of human origin or obtained from genetically engineered cells, which prevent the transmission of Hepatitis or HIV.
Some patients with Hemophilia A and minor bleeding may benefit from a synthetic hormone called Desmopressin.
Prophylaxis, on the other hand, is the regular use of clotting factor concentrates to prevent bleeding before it occurs. They are administered 1, 2 or 3 times a week and provide stable blood levels of the deficient factor.
Is there a cure for hemophilia?
To date, there is no cure for this disease. However, gene therapy is an interesting possibility to achieve it, either partially or totally. Liver transplantation has also been considered.
In any case, the patient’s life expectancy will depend on adequate treatment. Without it, many patients do not live to adulthood. However, with it, life expectancy is similar to the non-hemophiliac population.
Precautions to be taken by hemophilia patients
Hemophiliac patients should refrain from contact sports, such as boxing, martial arts or football. However, it should not be a taboo for them, since they can prevent hemorrhages by strengthening muscles and joints. Swimming, badminton, cycling or walking are recommended.
Another situation that should be avoided is taking Aspirin because it interferes with platelet aggregation, facilitating the onset of bleeding.