Disease etiology
Hemophilia B is a genetic condition emerging from missing factor IX, which is a clotting protein. Despite the condition being hereditary, close to 1/3 of the cases result from spontaneous mutation of genes. Accordingly, the modifications curtail clotting protein from functioning correctly. Moreover, these genes are found in the X chromosomes. Males have X and Y chromosomes, where X is inherited from the mother and Y from the mother. Conversely, females inherit the X.
Disease statistics
According to the statistics of the US Centers for Disease Control and Prevention, close to one in every five thousand live births is a hemophilia case. Additionally, the United States of America has approximately twenty thousand people suffering from hemophilia. The condition affects all the races and ethnic groups present in the country. However, the prevalence of hemophilia B is four times less compared to hemophilia A.
Signs and symptoms
Individuals affected by hemophilia B bleed longer than other people. Normally, the bleeding occurs internally, in joints, from minor injuries, externally, or through dental procedures. However, the extent and severity of bleeding depend on the quantity of FIX available in the plasma. The plasma levels for a normal person ranges from 50% to 150%. The required levels for an individual’s blood to form a clot is below 50%. Individuals with mild hemophilia B have excess bleeding only after serious injuries, and the disease is hardly diagnosed until after the injury. Those with moderate hemophilia B experience excessive bleeding after minor injuries.
Diagnosis
Accurate diagnosis is critical for the adequate management of hemophilia. There is a need for testing to be done by a highly specialized coagulation laboratory. Various tests can be conducted to establish the presence of the disease. Notably, the hemophilia treatment centers(HTCs), which are available in various parts of the US, offer comprehensive care for the affected individuals since they have skilled hematologists. Additionally, an individual’s medical history is critical in determining if other family members have been diagnosed with bleeding conditions. Tests ascertain clotting time and the patient’s capacity to form a clot. Particularly, an assay test determines the type of hemophilia.
Treatment
The primary medication to correct the condition is concentrated FIX product, referred to as the clotting factor. Moreover, recombinant factor products which are established in a lab using DNA technology impede the utilization of human-deprived pools of donor-sourced plasma. Close to 75% of hemophilia community individuals use recombinant FIX product. These factor therapies are administered through a vein in the hand or chest port. Individuals with severe hemophilia are advised to undergo a routine treatment referred to as prophylaxis to sustain sufficient clotting factor in their bloodstream to curb bleeds. According to the Medical and Scientific Advisory Council (MASAC), children with serious hemophilia B need to take prophylaxis as optimal therapy. Moreover, aminocaproic acid is also used in preventing the breaking down of blood clots.
Prognosis
The disease can be slight, moderate, or serious, depending on the quantity of clotting factor VIII that is present in the blood of an individual. Close to 50-60% of individuals with the condition have a severe form of the disorder. However, with education and treatment, the affected persons can lead to vigorous and lively lives. Life expectation depends on the reaction to treatment and the availability of other illnesses.