Hemophilia is defined as a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely from even a slight injury.
This is a rare disorder in which your blood does not clot normally because it lacks sufficient blood clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally, according to the Mayo Clinic.
It is stated that small cuts usually aren’t much of a problem. The greater health concern is deep bleeding inside your body, especially your knees, ankles and elbows. That internal bleeding can damage your organs and tissues and may be life threatening.
Hemophilia is an inherited disorder. There is no known cure, but with the proper treatment and self-care, most people are stated to have hemophilia while maintaining active, productive lifestyles.
One report notes that 400,000 people worldwide are living with hemophilia, and 400 babies are born with it each year, according to the Hemophilia Federation of America.
1. According to WebMD – Hemophilia refers to a group of inherited disorders that cause abnormal bleeding. The bleeding is said to occur because part of the blood – called plasma – has too little of a protein that helps blood clot.
Symptoms of hemophilia range from increased bleeding after trauma, injury, or surgery to sudden bleeding with no apparent cause. There are two types of hemophilia:
2. Hemophilia A – also called classic hemophilia – is most common and occurs in about 80% of people with hemophilia
This type results from too little of a plasma protein called factor VIII, which helps blood clot the greater the deficiency, the more severe the symptoms.
- Mild Hemophilia – 5-40% of the normal factor VIII level
- Moderate Hemophilia – 1-5% of the normal factor VIII level
- Severe Hemophilia – Less than 1 percent of the normal factor VIII level
It is stated that most people who have hemophilia A have moderate or severe symptoms.
3. Hemophilia B – Also called Christmas disease – is less common and occurs in about twenty percent of people with hemophilia. It is so called Christmas disease because the disorder was first reported in the medical literature in 1952 in a patient with the name of Stephen Christmas.
This type results from too little of a plasma protein called factor IX, which helps blood clot. As in hemophilia a, hemophilia B can be mild, moderate or severe. The greater the deficiency, the more severe the symptoms.
It is important to recognize that if there is no family history of hemophilia, an infant would not be tested for the condition. However, if there is a family history, specific tests can be done from an umbilical cord blood sample to see if a newborn infant has hemophilia.
In a description from Medicinenet. – Hemophilia is caused by a genetic mutation. The mutations are said to involve genes that code for proteins that are essential in the blood clotting process. The bleeding symptoms arise because blood clotting is impaired.
This report describes that the process of blood clotting involves a series of complex mechanisms, usually involving 13 different proteins classically termed factors 1 through 13 and written with Roman numerals. If the lining of the blood vessels becomes damaged, platelets are recruited to the injured area to form an initial plug. These activated platelets release chemicals that start the clotting cascade, activating a series of 13 proteins known as clotting factors. Ultimately, it is stated, fibrin is formed. Fibrin is an insoluble protein formed from fibrinogen during the clotting of blood. It forms a fibrous mesh that impedes the flow of blood.
So, we’re here to talk about Factor X – also known as the Stuart Prower Factor Deficiency
The incidence of FX deficiency is estimated at 1 in 500,000 to 1 in a million. It is said to be inherited in an autosomal recessive fashion, meaning that both parents must carry the gene to pass it on to their children; it affects men and women equally. The factor X protein plays an important role in activating the enzymes that help to form a clot. It needs vitamin K for synthesis, which is produced by the liver.
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4. Acquired FX deficiency can result from a lack of vitamin K, amyloidosis (abnormal buildup of the protein amyloid in various organs) and severe liver damage.
People with mild FX deficiency experience easy bruising, nose or mouth bleeds, and bleeding after trauma or surgery. Symptoms for patients with severe FX deficiency include excessive umbilical cord bleeding, joint bleeds and bruising. More serious bleeds include spontaneous head bleeds, spinal cord bleeds and gastrointestinal bleeds. Women with FX deficiency may have menorrhagia, heavy menstrual bleeding. Pregnant women are said to possibly experience first trimester miscarriage or other complications during labor and delivery.
5. Accordingly, there is no FX concentrate currently available in the United States, although one is currently in clinical trials. Fresh-frozen plasma (FPP) or plasma derived prothrombin complex concentrates (PCCs) are normally used as treatment. However, the amount of FX varies between PCCs. PCCs should be used cautiously because at higher volumes they can produce blood clots.
6. What Causes Hemophilia?
It is stated that men and women each have 23 pairs of chromosomes. Women have two X chromosomes, men have one X and one Y chromosome. Hemophilia is an X linked genetic disorder, which means that it’s passed on from the mother to the son on the X chromosome. If the mother carries the gene for hemophilia on one of her X chromosomes, each of her sons will have a fifty percent chance of having hemophilia.
Furthermore, although girls rarely develop the symptoms of hemophilia itself, they can be carriers of the disease. In some cases, girls who are carriers can have mild bleeding symptoms. For a girl to get hemophilia, she would have to receive affected X chromosomes from both of her parents. Although this is not impossible, it is highly unlikely.
7. There Are Symptoms To Watch Out For
- bruises that are unusual in location or number
- nosebleeds that won’t stop
- excessive bleeding from biting a lip, having a tooth pulled or losing a tooth
- painful or swollen joints
- blood in the urine
There are Hemophilia Treatment Centers funded by the Federal Government in a nationwide network of hemophilia treatment centers. These centers are an important resource for people who have hemophilia and their families.
The medical experts at these centers provide treatment, education and support. They can teach you or your family members how to do home treatments.
People that get care at these Hemophilia Treatment Centers are less likely than those who get care elsewhere to have bleeding complication and hospitalizations. They’re also more likely to have a better quality of life. This may be due to the centers’ emphasis on bleeding prevention and the education and support provided to patients and their caregivers.
8. More than 100 federally funded HTCs are located throughout the United States. Many HTCs are located at major university medical and research centers. The hemophilia teams at these centers include:
- Nurse coordinators
- Social Workers
- Physical Therapists
9. Finally – take note that young children with this disease need extra protection from things in the home and elsewhere that could cause injuries and bleeding:
- Protect toddlers with kneepads, elbow pads, and protective helmets. All children should wear safety helmets when riding tricycles or bicycles
- Be sure to use the safety belts and straps in high chairs, car seats, and strollers to protect your child from falls.
- Remove furniture with sharp corners or pad them while your child is a toddler.
- Keep out of reach or locked away, small and sharp objects, and other items that could cause bleeding or harm.
- Check play equipment and outdoor play areas for possible hazards.
The point is this – this is not a debilitating disease, however it is very serious. There is no cure for hemophilia though there is treatment…
10. The main treatment for hemophilia is called replacement therapy. Concentrations of clotting factor VIII or clotting factor IX are slowly dripped or injected into a vein. These infusions help replace the clotting factor that is missing or low.
The main thing to remember here is that your friend with hemophilia is not going to bleed to death from a paper cut. It may take some time to quit bleeding, though it should not bleed long or hard enough for him or her to die.
Take these notes into consideration if you’re dealing with someone with this rare disorder.