What is Hemophilia? Types
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%), Hemophilia C.
It should be noted that hemophilia is a rare disease, with an incidence of 1/10,000 people for type A and 1/50,000 for type B, with hemophilia C being very rare. There are currently some 400,000 patients with hemophilia registered in the world, 3,000 of them in Spain.
What symptoms does it present?
Patients with hemophilia may have internal or external bleeding. Most occur in the joints or muscles: knees, elbows and ankles, as well as in the muscles of the upper arm, forearm, psoas, thigh and calf. When bleeding from the joint is repeated, the joint may be damaged and cause pain in the patient. Repeated bleeding can also lead to other health problems, such as arthritis with cartilage involvement, which can become chronic, deforming the joint, or ankylosis with loss of joint function. The intensity and frequency of bleeding will depend on the degree of hemophilia suffered by the patient.
Causes of hemophilia or why it occurs
People are born with hemophilia; that is, it is an inherited disease. It is transmitted through the genes of the father or mother. Hemophilia A and B genes are on the X chromosome, so the disease is considered X-linked.
When the father has hemophilia but not the mother, no sons will have hemophilia. 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 small chance that, if the father is a hemophiliac and the mother is a carrier, her daughter will have hemophilia.
Can it be prevented?
Hemophilia cannot be prevented because it is an inherited disease. However, a number of precautionary measures should be taken by those who suffer from hemophilia.
Thus, patients with hemophilia should avoid contact sports, such as boxing, martial arts or American soccer. However, it should not be a taboo for them, as they can prevent bleeding by strengthening muscles and joints. Instead, sports such as swimming, badminton, cycling or hiking are recommended.
Another situation to avoid is taking acetylsalicylic acid because it interferes with platelet aggregation, facilitating the appearance of hemorrhages.
What is the treatment?
The current treatment of hemophilia is effective by administering the deficient factor in blood. Thus 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 are factor concentrates, which is the preferred therapy. These can be of human origin or obtained from genetically engineered cells, which prevent the transmission of Hepatitis or HIV.
In addition, some patients with Hemophilia A and minor bleeds may benefit from a synthetic hormone, called Desmopressin.
On the other hand, prophylaxis is another of the most effective treatments. It involves 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.