What is hemophilia? > Health and Wellness.
Hemophilia is a hereditary disease that consists of a difficulty or inability of the blood to clot. A small wound, which under normal conditions is negligible, for a hemophiliac may constitute a real problem. The
pathology is usually characterized by the emergence of internal and
external bleeding, as well as other symptoms arising from this
situation.
Is considered a rare disease, because it affects a very small percentage of the population: 1 of every 6,000 newborns live in the case of hemophilia A, and 1 of every 30,000 in the Hemophilia B.
Speaking of the history of hemophilia is can remember the case of Queen Victoria de Inglaterra (19th century) who, after the birth of their eighth child, discovered that it was a carrier of hemophilia. As it was the custom among the noble classes, there were numerous marriages concluded with members of other Royal families, so that the "germ" of hemophilia was spreading the Royal houses of Europe in this family. So how this disease finally be known in the Western world as "the disease of Kings".
Hemophilia is a hereditary disease; its transmission is linked to chromosome X (sex chromosome), and there exists an equivalent allele on chromosome and.
The defective gene is recessive compared to the normal gene, meaning that whenever a normal copy of the gene is present, the individual carrier will be a healthy individual. It is for this reason that hemophilia is a condition in which women tend to be carriers, only men are those with the disease: in the human chromosomes come in pairs. Thus, in its genome there are two copies of all genes. If one of the copies has an error, is the other to ensure that their functions are carried out correctly. But there is an exception: the sex chromosomes, X and and. Women have two copies of the X chromosome, so if a girl inherited from one parent a chromosome with the defective gene even you will have another copy which will ensure a correct coagulation (there is an extremely low probability that both carry the defective gene). The men, however, only have one chromosome X, if this has the defective gene, the disease appears in 100% of cases.
One can distinguish two types of hemophilia; both are characterized by the same symptoms, but differ in the improper coagulation cascade factor.
It must be borne in mind that any accident than for a healthy person would not be more than slight discomfort, for a haemophiliac can mean a problem more or less serious. Thus, any court, the appearance of a hematoma, etc., should be immediately controlled and treated with appropriate measures.
One of the most common problems of this pathology is the appearance of haematomas or hemophilic arthropathy: deterioration of the joints by repeated haemorrhages. At the point of union of the bone joint there is a membranous coating called synovium. This way the synovial fluid, which helps the movement of bones and prevents the friction between them. The synovial membrane has also multitude of capillaries, which sometimes can break due to small lesions or own natural friction of the joint. In a healthy individual, the rupture of the capillary is quickly repaired by the formation of a clot, but in an individual who suffers from hemophilia, the rupture of capillaries will lead to continuous bleeding, which may result in an inflammatory process accompanied by pain. The person undergoing this process will take an initial feeling of tingling and heat in the joint. To measure articular capsule is filled with blood, inflammation and pain increase, and the ability to move is becoming limited.
With the passage of time and recurrence of these episodes, hemorrhages occur more and more easily, and the blood will begin to accumulate, causing damage to the tissue and causing the membrane to stop producing synovial fluid. Lack of lubrication cause wear of the bones, and the affected joint will become rigid and will lose stability, especially when the muscle that surrounds the articulation go weaken because of continued inflammation and abnormal movement.
Without proper treatment, this degenerative process can lead to the total loss of function of joint, deformations, and muscular atrophy. This syndrome mainly occurs in the knee, but may also appear on the elbows, ankles, shoulders, hip and other areas of the body. In addition to the joints, there are other parts of the body that are affected most frequently in patients with hemophilia:
There is the possibility of a prenatal diagnosis for hemophilia through the analysis of the amniotic fluid extracted by puncture (amniocentesis).
A newer technique is preimplantation diagnosis. This is based on the analysis of the presence of the mutation in a single cell, allowing you to select the healthy embryo to implant in the womb.
The hemophilia treatment is relatively easy, simply consists of the contribution of the factor deficient or absent. So are complete transfusions, contribution of fresh plasma frozen or concentrates of recombinant factor concentrates and plasma factors; in general, the drawback of concentrates is its high cost.
The dose of factor to apply (8th or 9th depending on the type of hemophilia A or B) will depend on the age of the patient and the degree of severity of the bleeding episode. Treatments with blood and blood products always carry with them certain drawbacks: first, is the risk of infection by virus or other pathogens from the donor; Therefore there must be a strict control of the samples and, in the case of concentrates, always comes to a treatment of viral inactivation. Another problem that can be found in some individuals is the emergence of an immune response against the managed factor; i.e., that the body of the receiver detects the introduced factor, and take it as a strange substance against which they must fight. In case of this reaction, the response will be higher the greater the amount of defective factor. In these cases it will be to treat the patient with concentrated mixtures of clotting factors or factor VII activated.
Currently we have developed methods by which the patient can apply treatment at home (always prior training by qualified personnel); This is a very important breakthrough, not only in improving the quality of life of the patient, but also in the development of the disease. Home treatment prevents the hospital admission and, therefore, absenteeism from school and work, decreases the number of bleeding joints, and prevents the appearance of recurrent hemarthrosis.
Physical therapy can be used as a preventive measure by the recommendation of appropriate exercises, that maintain the patient in proper physical condition, that facilitates the emergence of musculoskeletal injury prevention. Also can go to these specialists once has appeared the injury; its action will focus on reducing inflammation and pain, and to recover lost function, minimizing the potential fallout.
In recent times is being conducted certain lines of research aimed at treatment using gene therapy, based on the introduction of genes into the patient's cells that provide the necessary information for the correct production of absent or defective factor.
Is considered a rare disease, because it affects a very small percentage of the population: 1 of every 6,000 newborns live in the case of hemophilia A, and 1 of every 30,000 in the Hemophilia B.
Hemophilia: disease of the Kings
The first descriptions found in Jewish writings, of cases that probably correspond to hemophilia, date back to the 2nd century b.c. There were certain regulations which exempted from the ritual of circumcision to those children whose older siblings had suffered big haemorrhages, or died during this procedure. Later appear different stories that recount the strange death by bleeding of, for example, all the brothers of a family.Speaking of the history of hemophilia is can remember the case of Queen Victoria de Inglaterra (19th century) who, after the birth of their eighth child, discovered that it was a carrier of hemophilia. As it was the custom among the noble classes, there were numerous marriages concluded with members of other Royal families, so that the "germ" of hemophilia was spreading the Royal houses of Europe in this family. So how this disease finally be known in the Western world as "the disease of Kings".
Causes of hemophilia
The causes of hemophilia are absence, deficiency or inadequate creation of certain proteins that are part of the so-called coagulation cascade. When an injury occurs, the body gives the order to mobilize a number of components present in the blood (found in circulation at any time, whether or not wound) that will attend the point injured, forming a wall that prevents the output of blood. This 'wall' (clot) formation happens after the performance of some proteins called clotting factors. The process through which these activate the clotting mechanism called the coagulation cascade, since each of them (12 in total) activates the next. Because of this activation cascade, if one of the factors is not present, or is it poorly, it will be the cause of a failure in the process.Hemophilia is a hereditary disease; its transmission is linked to chromosome X (sex chromosome), and there exists an equivalent allele on chromosome and.
The defective gene is recessive compared to the normal gene, meaning that whenever a normal copy of the gene is present, the individual carrier will be a healthy individual. It is for this reason that hemophilia is a condition in which women tend to be carriers, only men are those with the disease: in the human chromosomes come in pairs. Thus, in its genome there are two copies of all genes. If one of the copies has an error, is the other to ensure that their functions are carried out correctly. But there is an exception: the sex chromosomes, X and and. Women have two copies of the X chromosome, so if a girl inherited from one parent a chromosome with the defective gene even you will have another copy which will ensure a correct coagulation (there is an extremely low probability that both carry the defective gene). The men, however, only have one chromosome X, if this has the defective gene, the disease appears in 100% of cases.
One can distinguish two types of hemophilia; both are characterized by the same symptoms, but differ in the improper coagulation cascade factor.
- Hemophilia A: the defect lies in factor VIII. This is the most common type, is that manifests itself in 85% of cases.
- Hemophilia b the defect are in factor IX.
Symptoms of hemophilia
The main symptom of hemophilia is the emergence of internal and external bleeding, whether spontaneous or provoked. Derived from these hemorrhages will appear other clinical manifestations, which are common to the majority of patients.It must be borne in mind that any accident than for a healthy person would not be more than slight discomfort, for a haemophiliac can mean a problem more or less serious. Thus, any court, the appearance of a hematoma, etc., should be immediately controlled and treated with appropriate measures.
One of the most common problems of this pathology is the appearance of haematomas or hemophilic arthropathy: deterioration of the joints by repeated haemorrhages. At the point of union of the bone joint there is a membranous coating called synovium. This way the synovial fluid, which helps the movement of bones and prevents the friction between them. The synovial membrane has also multitude of capillaries, which sometimes can break due to small lesions or own natural friction of the joint. In a healthy individual, the rupture of the capillary is quickly repaired by the formation of a clot, but in an individual who suffers from hemophilia, the rupture of capillaries will lead to continuous bleeding, which may result in an inflammatory process accompanied by pain. The person undergoing this process will take an initial feeling of tingling and heat in the joint. To measure articular capsule is filled with blood, inflammation and pain increase, and the ability to move is becoming limited.
With the passage of time and recurrence of these episodes, hemorrhages occur more and more easily, and the blood will begin to accumulate, causing damage to the tissue and causing the membrane to stop producing synovial fluid. Lack of lubrication cause wear of the bones, and the affected joint will become rigid and will lose stability, especially when the muscle that surrounds the articulation go weaken because of continued inflammation and abnormal movement.
Without proper treatment, this degenerative process can lead to the total loss of function of joint, deformations, and muscular atrophy. This syndrome mainly occurs in the knee, but may also appear on the elbows, ankles, shoulders, hip and other areas of the body. In addition to the joints, there are other parts of the body that are affected most frequently in patients with hemophilia:
- Eyes.
- Brain.
- Throat.
- Kidneys.
- Digestive system.
- Genital tract.
Diagnosis of hemophilia
Diagnosis of hemophilia focuses on the determination of the type of Hemophilia and in their degree of severity. Your doctor should perform a study of the clinical history of the patient, and a blood test in which the levels of other clotting factors will be measured.There is the possibility of a prenatal diagnosis for hemophilia through the analysis of the amniotic fluid extracted by puncture (amniocentesis).
A newer technique is preimplantation diagnosis. This is based on the analysis of the presence of the mutation in a single cell, allowing you to select the healthy embryo to implant in the womb.
Hemophilia treatment
To be a disease of genetic origin there is no treatment that will result in the definitive disappearance of the hemophilia. Employed therapies are intended to reduce the hemorrhagic tendency of the affected organism.The hemophilia treatment is relatively easy, simply consists of the contribution of the factor deficient or absent. So are complete transfusions, contribution of fresh plasma frozen or concentrates of recombinant factor concentrates and plasma factors; in general, the drawback of concentrates is its high cost.
The dose of factor to apply (8th or 9th depending on the type of hemophilia A or B) will depend on the age of the patient and the degree of severity of the bleeding episode. Treatments with blood and blood products always carry with them certain drawbacks: first, is the risk of infection by virus or other pathogens from the donor; Therefore there must be a strict control of the samples and, in the case of concentrates, always comes to a treatment of viral inactivation. Another problem that can be found in some individuals is the emergence of an immune response against the managed factor; i.e., that the body of the receiver detects the introduced factor, and take it as a strange substance against which they must fight. In case of this reaction, the response will be higher the greater the amount of defective factor. In these cases it will be to treat the patient with concentrated mixtures of clotting factors or factor VII activated.
Currently we have developed methods by which the patient can apply treatment at home (always prior training by qualified personnel); This is a very important breakthrough, not only in improving the quality of life of the patient, but also in the development of the disease. Home treatment prevents the hospital admission and, therefore, absenteeism from school and work, decreases the number of bleeding joints, and prevents the appearance of recurrent hemarthrosis.
Physical therapy can be used as a preventive measure by the recommendation of appropriate exercises, that maintain the patient in proper physical condition, that facilitates the emergence of musculoskeletal injury prevention. Also can go to these specialists once has appeared the injury; its action will focus on reducing inflammation and pain, and to recover lost function, minimizing the potential fallout.
In recent times is being conducted certain lines of research aimed at treatment using gene therapy, based on the introduction of genes into the patient's cells that provide the necessary information for the correct production of absent or defective factor.
Published for educational purposes