Raising Awareness: Hemophilia

 In Hematology, Infusion Center

Hemophilia is a serious medical condition that occurs in 1 out of every 5,000 live births, according to the National Hemophilia Foundation. Hemophilia A is four times as common as hemophilia B. While there is currently no cure for hemophilia, treatments and following the advice of medical professionals can significantly improve the quality of life for hemophilia patients. Here, we discuss everything you should know about hemophilia and how to live a more comfortable life with this disorder.

What is hemophilia?

Hemophilia is a genetic bleeding disorder that prevents blood from clotting in a normal way. The amount of bleeding is entirely dependent on the severity of the condition. It is crucial to receive treatment for hemophilia immediately after a diagnosis, because it can cause permanent damage if left untreated. The disorder primarily affects males from birth and is typically passed on from a mother’s chromosomes. Females can also be affected by the disease, though it only occurs in rare cases.

What are the symptoms of hemophilia?

Hemophilia must be diagnosed early to prevent serious problems. It can only be diagnosed by a medical professional, so speak with a doctor if you experience the following symptoms, which may range in severity:

  • Pain in your joints
  • Bleeding
  • Blood in your stool
  • Blood in your urine
  • Internal bleeding
  • Prolonged or heavy periods
  • Nosebleeds
  • Swollen joints
  • Bruising

The extent of these symptoms is dependent on the severity of your clotting factor deficiency. A person with a mild deficiency may only experience bleeding in cases of trauma, whereas a person with a severe deficiency may bleed without any reason. The spontaneous bleeding is the primary factor that increases the intensity of the other symptoms.

People who experience any of the following symptoms of hemophilia should immediately seek medical attention.

  • Repeatedly vomiting
  • Severe headache
  • Blurred vision
  • Injuries that continuously bleed
  • Neck pain
  • Extreme fatigue

These symptoms in relation to hemophilia constitute a medical emergency and are potentially life-threatening. When the symptoms of hemophilia are left untreated, they can lead to chronic joint disease and pain, bleeding in the head or brain, seizures, paralysis and death.

What are the causes of hemophilia?

Since hemophilia is a genetic disorder, it is passed on from a parent to a child through their chromosomes. The faulty gene is most commonly located on the X chromosome. Since X chromosomes are passed on from mothers to their sons, hemophilia almost always occurs in males. Most women who are carrying the defective gene experience no symptoms of the disorder and can unknowingly pass on the gene. There is currently no effective way to prevent hemophilia in a person who inherits the defective gene. If the disorder runs in your family, you can be tested to see if you are carrying the defective gene.

What is the treatment for hemophilia?

There are several effective treatments for hemophilia that can help improve the quality of life for people who suffer from the disorder. Unfortunately, there is currently no cure for hemophilia, but the following treatments can help you live a more comfortable life.

One of the best ways to treat hemophilia is to replace the blood clot factor that is missing to allow blood to clot properly. This treatment involves infusing factor concentrates that are prepared commercially directly through a vein. People who have hemophilia can be taught how to perform these infusions themselves so that they possess the ability to stop major episodes of bleeding. Performing these infusions on a consistent basis can successfully prevent significant bleeding episodes. Replacement blood clotting factor can also be obtained from donated blood. Quality health care from doctors and nurses who specialize in the disorder is an excellent way to prevent some of the more serious problems that are associated with the disorder.

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There are also several therapies that you can participate in to reduce the severity of your symptoms:

  • Physical therapy – If internal bleeding has caused damage to your joints, physical therapy can help ease the signs and symptoms. If your joints have experienced severe damage from internal bleeding, you may require surgery.
  • Fibrin sealants – Fibrin sealants are commonly used in dental care, but they are also useful for treating hemophilia. The medication can be directly applied to a wound site to assist the healing and clotting process.
  • First aid – When you experience a minor cut, apply pressure and a bandage to deal with the bleeding. Using ice is excellent for slowing down the bleeding.
  • Medications – There are certain medications that can help prevent clots from breaking down. Speak with your doctor to find out if a prescription is right for you, and always follow the dosages your doctor prescribes.
  • Desmopressin – Desmopressin is a synthetic hormone that can be used to stimulate the body to release additional clotting factors. This treatment is typically only effective in mild cases of hemophilia.

Living with hemophilia

Receiving a diagnosis for a serious genetic disorder can be a frightening experience, but it does not have to take control of your life. It is possible to live a comfortable and fulfilling life while dealing with the symptoms of hemophilia. There are several steps you can take to prevent further complications from hemophilia. These guidelines are effective for managing disease and avoiding episodes of bleeding:

  • Practice healthy dental hygiene – Dental work can lead to excess bleeding, which can become an issue for people with hemophilia. Thoroughly clean your teeth and gums multiple times each day to avoid dental issues that could lead to excessive bleeding.
  • Avoid certain medications – Avoid taking medications that are used to thin blood, such as heparin. Over-the-counter medications such as ibuprofen and aspirin can also cause problems for people with hemophilia. If you need to take a medication for pain relief, acetaminophen is a viable and safe option. Speak with your doctor about any medications that can negatively impact your management of hemophilia.
  • Exercise regularly – Consistent exercise is essential for maintaining a healthy body weight and improving the strength of your bones and muscles. You should avoid sports and physical activity that present a high risk of physical injuries. These include physical contact sports such as football and soccer. Some safe options for exercising include swimming, walking and using a stationary bicycle. 
  • Take precautions with children – You need to take extra precautionary measures to protect children who have hemophilia. Equip them with safety helmets and knee pads when they are riding a bicycle. Accident-proof your home by covering sharp corners on furniture and removing anything that can be a tripping hazard.
  • Get yearly checkups – Getting an annual checkup at a treatment center that specializes in hemophilia is an excellent way to make sure that you are receiving the best care. Receive regular tests for blood infections, and speak with your doctor about any additional efforts you can make.

Living with hemophilia is a daily challenge that can seem overwhelming at times, but you are not alone in your struggles. Seeking the support of your family, friends and hemophilia support groups can help you deal with your anxiety surrounding the disorder. Support groups, in particular, are valuable resources that people living with hemophilia can use to help and learn from each other.

Stay in close contact with your doctor, especially when symptoms begin to worsen or you are experiencing an increase in the frequency of bleeding episodes. Proper communication with your doctor can help prevent the development of serious complications and could potentially save your life. If you are worried about passing the defective gene onto a child, speak with a medical professional who can test for the gene and let you know if it is safe to conceive a child.

Hemophilia treatment in Raleigh, Cary and Wake Forest

The symptoms of hemophilia can be painful and challenging to deal with at times, but proper preventive measures can help reduce the frequency and severity of the symptoms. If you exercise regularly, drink enough water, eat a balanced diet, practice good hygiene and take additional safety measures, you can potentially reduce your symptoms.

If you experience any of the symptoms of hemophilia, contact a doctor, even if they are mild. It is important to receive a diagnosis and begin the treatment process as soon as possible to prevent further complications.

Personalized Hematology-Oncology of Wake Forest is a hematology specialist and certified infusion center serving Raleigh, Durham, Wake Forest and the surrounding region. Our facility has treated patients with friendly, personalized care for years. To learn more about our practice or to make an appointment, please contact us today.

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