Most individuals go through life without having to worry about minor cuts and bruises. They can play sports, ride a bike, or skateboard and feel at ease doing so. Hemophilia patients, in comparison, do not necessarily have the same liberties because to them, minor cuts and bruises can have serious consequences. Most individuals with hemophilia were diagnosed with the disease when they were babies or young kids. They may have found out they had hemophilia following minor surgery, such as having their appendix or tonsils removed.
Read the following to learn about what hemophilia is and how it can be treated.
What Is Hemophilia?
Hemophilia is a disease that prevents blood from clotting properly. As a result, hemophilia patients bleed more than those without hemophilia do. Typically, when individuals get a cut, the body protects itself by sending platelets or sticky cells in the blood to the site of the bleeding. The platelets plug the hole by releasing chemicals, which attract more platelets, and by activating clotting factors, a protein mix that forms fibers to strengthen the blood clot and stop the bleeding. The human body usually contains thirteen clotting factors that play a role in this process. Hemophilia patients lack one of these factors, usually factors VIII or IX. In rare cases, they lack factor XI.
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Symptoms Of Hemophilia
There are three main types of hemophilia: A, B, and C. Hemophilia A is the most common and occurs when clotting factor VIII is deficient. Hemophilia B occurs when clotting factor IX is deficient, and hemophilia C, the rarest form, occurs when clotting factor XI is deficient. The type of hemophilia an individual has determines the frequency and strength of symptoms. Some symptoms of hemophilia include spontaneous nosebleeds, unexplained bruising, bleeding gums, and blood in the urine or stool. In moderate and severe forms of hemophilia, symptoms are usually visible early in life. Children bruise easily and bleed excessively even with only minor wounds. They may also experience bleeding in the joints upon falling among other symptoms of hemophilia.
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Causes And Risk Factors
Hemophilia happens when an individual's blood is unable to properly clot due to the absence of certain blood particles called clotting factors. Most forms of hemophilia are inherited from an individual's parents or grandparents. However, around a third of patients diagnosed with hemophilia have no familial history of hemophilia. These patients have hemophilia caused by a spontaneous mutation in one of the genes in their DNA.
Hemophilia can also be acquired in rare cases. This occurs when an individual's immune system begins to abnormally attack the clotting factors in their blood. Risk factors for acquired hemophilia include autoimmune conditions, pregnancy, multiple sclerosis, and cancer. Factors that increase an individual's risk of having inherited hemophilia include a familial history of the disease and being male. This occurs because hemophilia is caused by a mutation in the X chromosome. When this mutation is passed to a male, they will always have hemophilia. When this mutation is passed to a female, there is a chance she may not have hemophilia.
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How It's Diagnosed
Diagnosis of hemophilia can be made during adulthood, childhood, or even when the affected individual is still a fetus. Hemophilia symptoms can occur at various ages depending on how severe the clotting factor deficiency is. The worst cases of hemophilia are almost always diagnosed within the first year of a patient's life, and some are only diagnosed after they experience excessive bleeding during an invasive procedure or surgery. Diagnostic tests that can identify hemophilia include an APTT test, which measures the amount of time it takes an individual's blood to clot. This provides indications related to the clotting factors eight, nine, eleven, and twelve.
A PT test may also be used to determine how long it takes for an individual's blood to clot by measuring the effectiveness of clotting factors one, two, five, seven, and ten. These clotting blood tests must be performed in order to diagnose hemophilia, as a patient will have a relatively normal complete blood count or CBC result. Sometimes, a low red blood cell count and low hemoglobin can be indicative of hemophilia.
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Treatments For Hemophilia
Hemophilia is a lifelong bleeding disorder, but there are safe and effective treatments for it. Common ones include prophylaxis, infusion therapy, and education. In prophylaxis treatment, patients are given medications several times a week to reduce the severity of their hemophilia. The medications contain a replacement clotting factor that helps prevent bleeding. In infusion therapy, the missing clotting factor is injected into the blood, which helps prevent and control bleeding. This can also be administered as a capsule. Education is important for patients and their families because successful treatment depends on treatment compliance. Understanding the early signs of bleeding and long-term consequences of untreated bleeds is essential for effective treatment.
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Advancements In Treatments For Hemophilia
There is no cure for hemophilia, except for getting a liver transplant. However, liver transplants can create additional health problems because of the risks associated with the surgery and the complications that can result from taking medications required to prevent organ rejection.
Although hemophilia used to be a fatal disease, researchers are now hopeful about finding a cure. Scientists are currently working on an experimental technique called gene therapy, which is intended to give individuals with hemophilia the genetic information required to produce their missing clotting factor. Gene therapy has been helpful in decreasing spontaneous bleeding for many patients with severe hemophilia. Scientists consider hemophilia a good test for gene therapy because it involves only one defective gene.
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Contraindications in the treatment of hemophilia include the use of any anticoagulant type medications like warfarin and heparin. Any blood-thinning medications, such as naproxen, acetylsalicylic acid, and ibuprofen are also contraindicated in individuals affected by hemophilia. In addition, physical activities that present a high risk of injury or trauma are also contraindicated in hemophilia patients. This includes activities such as skateboarding, dirt-biking, white-water rafting, rock climbing, ski jumping, roller skating, and alcohol binge drinking. Sports with a high rate of injury and frequent physical contact like hockey, wrestling, football, boxing, lacrosse, basketball, and rugby should be avoided as well. Extra caution should be taken by individuals with hemophilia when they are around sharp objects to prevent skin lacerations.
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Complications Of Hemophilia
Hemophilia can lead to a number of direct and indirect complications. Because some of these complications are preventable, it is important for individuals with hemophilia to follow the treatment advice provided by their doctor. Common complications of hemophilia include joint damage, inhibitors, compartment syndrome, and intracranial hemorrhage. Joint damage usually occurs when the cartilage and synovium become injured. This complication affects some older adults who did not undergo preventive treatments.
Inhibitors make it more difficult to treat hemophilia as well. Compartment syndrome develops when bleeding places excessive pressure on the arteries and nerves inside the muscles. If the arteries in the heart are affected and not treated in time, severe injury and death can result. Intracranial hemorrhage is bleeding in the head that usually occurs because of a head injury. It can result in brain damage, mental issues, and death.
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Tips On Living With Hemophilia
Most hemophilia patients live relatively normal day-to-day lives. They can do the same things healthy individuals do, but living with the condition does require them to take precautions. Individuals with hemophilia are encouraged to exercise, but they are at a greater risk of developing serious injuries if they play certain types of sports or perform certain exercises. All contact sports and team sports, including football, boxing, hockey, soccer, baseball, and basketball, are off-limits because they carry a high risk of injury.
Safe exercises and sports include solitary activities, such as swimming and cycling, that do not place as much pressure on the joints. Hemophilia patients should consult with their doctor about the best sports and exercises for them. Maintaining a healthy weight is also important because excess pounds can place a burden on the joints. It is important for hemophilia patients to learn as much as they can about their condition so they can take good care of themselves and make the best choices for their lives.