Hemophilia is an inherited disease due to a genetic alteration, linked to the X chromosome, which produces a deficit of blood clotting factor. This causes people with hemophilia to suffer internal or external bleeding. Prompt and effective treatment will decrease the damage to the organ or joint.
What is Hemophilia
The term Hemophilia comes from the Greek Haemos: blood and Philia: appetite for. It 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), deficit of coagulation factor IX for Hemophilia B (20% of the total) or the most infrequent, produced by a defect of coagulation factor XI (remaining 10%), which is known as Hemophilia C.
Origin of Hemophilia
People are born with hemophilia and it is a disease that you have to learn to live with all your life. It is a disorder that is transmitted through the genes of the father or mother. The genes for Hemophilia A and B are on the X chromosome, which is why this disease is described as X-linked.
When the father has hemophilia, but not the mother, none of the sons will have it. However, all daughters will carry the hemophilia gene. Females who have the hemophilia gene are called carriers. They sometimes show signs of bleeding and can pass it on to their offspring. For each of them there will be a 50% chance of expressing the disease if male and a 50% chance, if female, of also being a carrier. There is a remote possibility that if the father is a hemophiliac and the mother is a carrier, her daughter will have hemophilia.
Incidence of Hemophilia
Hemophilia is a rare disease. It has 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.
Symptoms of Hemophilia
Hemophilia patients may have internal or external hemorrhages. Most bleeding occurs in the joints or muscles, particularly knees, elbows and ankles, as well as the muscles of the upper arm, forearm, psoas, thigh and calf.
When joint bleeding occurs repeatedly, the joint may become damaged and painful. Repeated hemorrhages can cause other health problems, such as arthritis with cartilage involvement, a lesion that can become chronic, producing joint deformity or ankylosis with total loss of joint function.
The intensity and frequency of bleeding depends on the degree of hemophilia involved.
Diagnosis of Hemophilia
Hemophilia is diagnosed, as in any hematologic process, by performing a good anamnesis and clinical history, inquiring about bleeding history, both personal and family, and in case of suspicion, quantifying both the amount of clotting factor and its activity.
If the mother is a carrier, tests can even be performed before the baby is born. Prenatal diagnosis can be obtained between 9 and 11 weeks of gestation, by means of a chorionic membrane sample or by means of a fetal blood sample from the 18th week of pregnancy.
Precautions to be taken by hemophilia patients
Hemophiliac patients should refrain from contact sports, such as boxing, martial arts or football. However, contrary to what one may think, exercise should not be a taboo for them, as it can prevent the onset of bleeding by strengthening muscles and joints. Sports such as swimming, badminton, cycling or walking are recommended for this type of patient.
Another situation that should be avoided is the intake of Aspirin because it interferes with platelet aggregation, facilitating the appearance of hemorrhages.
Treatment of Hemophilia
The current treatment of hemophilia is very effective, thanks to the administration of the deficient factor into the bloodstream. Bleeding stops when a sufficient amount of factor reaches the site where the bleeding originates.
Bleeds need to be addressed quickly and effectively, as early treatment will decrease the damage to the affected joint, muscle or organ.
With proper treatment, hemophilia patients can lead a healthy life. Without it many of them would not reach adulthood. Unfortunately only 25% of all patients receive adequate treatment.
Among the available treatment options we have factor concentrates, which is the preferred therapy in hemophilia. They can be of human origin (constituting a hemoderivative of whole blood: cryoprecipitate or fresh frozen plasma) or obtained from cells genetically engineered to carry the human gene of the deficient factor, which are called recombinant products, and which arose to prevent the transmission of infectious agents from human blood, especially Hepatitis and HIV.
Some patients with Hemophilia A and minor bleeds (superficial hematomas) may benefit from the administration of a synthetic hormone that stimulates the release of factor VIII, called Desmopressin.
What are inhibitors and how do they adversely affect the treatment of hemophilia?
Inhibitors occur when the hemophilic patient’s immune system reacts against the proteins in the factor concentrates administered as if they were foreign substances, preventing therapeutic levels of the factor concentrates in the blood from being achieved when they are administered. This makes hemorrhagic phenomena difficult to control, posing a serious medical problem.
Prophylaxis as a treatment for Hemophilia
Prophylaxis is the regular use of clotting factor concentrates in order to prevent bleeding events before they occur. Using an administration schedule of 1, 2 or 3 times per week, stable blood levels of the deficient factor are maintained. It is mainly used for those patients with moderate or mild hemophilia, in whom this type of treatment reduces up to 1-2% the incidence of hemorrhagic phenomena, preserving functionality and chronic joint damage.
Is there a cure for hemophilia?
At present, as in other types of hemopathies, 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, due to the contribution of coagulation factors that would be produced by the liver cells. However, the risk of this type of aggressive surgery must be considered, especially the immunosuppressive treatment to avoid organ rejection.
Life expectancy of a hemophilia patient
Life expectancy will depend on whether or not the patient follows an adequate treatment regimen. This is why close follow-up by your hematology and coagulation disorders specialist is crucial. Without adequate treatment many of these patients do not live to adulthood. With systematized and controlled treatment, life expectancy is normal and equal to the non-hemophiliac population.
Cases of acquired hemophilia
These are very rare cases, but a person may develop it during his or her lifetime. Most of the time they are middle-aged or elderly patients, or young women who are in the last stage of pregnancy. When the underlying process is resolved, the pathology resolves.