Haemophilia is interpreted in clinical terms as a cluster of blood disorders that consist of haemophilia B, haemophilia A and Von Willebrand's disease. These disorders are inherited by a child from his or her parents and the defective gene that causes the disease, stay on the X chromosome. A person suffering from the ailment faces problem with clotting of the blood. His blood can not coagulate as an important clotting element is not found in his system. This factor, results in bleeding for longer than usual.
Types and Causes of Haemophilia
People suffering from Haemophilia-A lacks an important blood clotting element named factor VIII. This element is generally created in the liver of a person. This variant of Haemophilia is more common compared to haemophilia B. The Haemophilia B which is also called Christmas disease stems from the scarcity of factor IX.
In many cases, this does not come from inheritance and the victim acquires the ailment from a newer source. There are dominant and recessive forms of the variant called Von Willebrand's disease. Sometimes natural mutations of genes lead to this syndrome.
As a matter of fact, this is a disease that is seen mostly in the male population. Since the variants of Haemophilia are all X-linked disorders, they find the male population more susceptible as men have just one X chromosome.
Women who inherit the defective gene do not develop the ailment themselves but act as its carrier. They have a high possibility of passing the gene to their offspring. In some rare cases, a woman can inherit two defective X chromosomes from the parents and become afflicted with the ailment.
Symptoms o fHaemophilia
The most prevalent symptoms of the disease are continued bleeding in cases of injury and easy bruising. In some instances, the bleeding can occur without any external reason.
The extremeness of the disease determines the severity of bleeding in a victim. While trivial wounds do not pose much risk in the affected people, internal bleeding can have fatal consequences. If the person suffers from recurring bleeding in his joints, he can develop arthritis later in his life. If any hemorrhage takes place in the brain of the affected person, he has little chances of recovery.
Haemophilia Diagnosis
Antenatal screening and genetic counseling of families having the ailment is a step that can prevent its recurrence in their next generation. People who are acting as the carrier of the faulty genes can be easily detected with blood tests meant for the purpose.
Pregnant ladies can undergo ultrasound tests to evaluate the chance of the disease in the baby. This test also helps to determine the gender of the baby. Thereafter the parents can choose to opt for the advanced tests like CVS and amniocentesis.
Treatment of Haemophilia
As of now, there is no permanent remedy for Haemophilia. However, the patients are given injections containing the lacking clotting element but this can not increase its level in his blood. An important medicine in this context is desmopressin. The children suffering from this disease may require injections on a regular basis.
The clotting factor concentrate was initially derived from donated blood, but nowadays the advancements of medical science have enabled the doctors to procure it artificially. Since this material plays a crucial role in combating bleeding related problems, the affected people should store it within their reach.
They also need to keep information about the location of nearby treatment centers as the clotting factor concentrate is not found in general hospital or health centers. The artificially procured solutions are also known as recombinant factors.
After the advent of the recombinant factors, the earlier risks related with donated blood such as HIV or hepatitis virus, have been largely eliminated. The major concern that haunts the doctor is the chances of vCJD infection. This infection can take place from previous treatments where blood products were employed.
i have one question
if uncle suffering from haemophilia than there is chace occouring haemophilia in his nephew?