What is hemophilia?
Hemophilia is a genetic disorder linked to chromosome X that is the difficulty of the blood to clot properly. It is characterized by the appearance of internal and external bleeding due to partial deficiency of a clotting protein called antihemophilic globulin (clotting factor).
Clotting factors are a group of proteins responsible for activating the clotting process operating in cascade, ie one drives to the next and if it is deficient of one of them, there is no coagulation or is delayed much. Therefore, the blood is not consistent and does not form a good plug to stop bleeding. In severe hemophiliacs, even small injuries can cause numerous and fatal blood loss.
The main symptoms of this disorder are:
- Extensive bruising.
- Bleeding into muscles and joints, particularly knees, ankles and elbows.
- Spontaneous bleeding without a clear reason.
- Bleeding long after cut, extracted a tooth or surgery.
- Severe internal bleeding in vital organs, usually after a serious injury.
How is it transmitted?
The hemophilia A and B are gonosómica inheritance (sex-linked X). It thus has a much higher prevalence in males:
- With a hemophiliac father and carrier mother is not healthy: 100% of their daughters will be healthy carriers (they inherit the mutated allele from the father), and 100% of the children will be healthy non-carriers (who have not receive the mutant X) .
- With a hemophiliac father and mother healthy carrier (heterozygous): 50% of daughters are healthy carriers and 50% are hemophiliacs. As for male children, 50% are hemophiliacs (they receive a single maternal X, which in this case is mutated) and 50% will be healthy non-carriers (have received no default X).
- With a healthy father and healthy carrier mother: 50% of the daughters will be healthy non-carriers, and 50% will be healthy carriers. As for boys, as in the previous case, 50% are hemophiliacs and the remaining 50% will be healthy noncarriers.
Hemophilia is a condition that affected almost exclusively by males, although they can never be carriers, and almost all hemophiliacs are children of healthy mothers, who carry the gene, ie, that their ancestors there any history, but almost third of patients occurred without a family history. In these cases, hemophilia is caused by a mutation in the gene for the mother or child.
In general, acquired hemophilia is caused by the development of antibodies to factor VIII (the body’s immune system destroys its own naturally occurring factor VIII). This problem often resolves with treatment that includes a combination of steroids and the drug cyclophosphamide
Tags: blood disorders, caused hemofilia, genetic disease, Hemofilia, hemofilia treatment, symptoms of hemofilia
