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QUOTE FOR MONDAY:

“Meningitis is an inflammation of the membranes that cover the brain and spinal cord. It can be caused by a number of infectious agents including viruses and bacteria. The type of meningitis and its cause can only be determined by conducting laboratory tests.

Viral meningitis (also called aseptic meningitis) is the most common type of meningitis and is less severe than bacterial meningitis. In Illinois, an average of 600 cases of aseptic meningitis is reported annually, with most occurring in late summer and early autumn. The majority of cases of aseptic meningitis are due to viruses called enteroviruses that can infect the stomach and small intestine. A small number of cases are caused by different viruses, which can be transmitted by infected mosquitoes; these are called arboviruses. Fatal cases of viral meningitis are rare and complete recovery is the rule.

Bacterial meningitis is often more severe than aseptic meningitis, particularly in infants and the elderly. Before antibiotics were widely used, 70 percent or more of bacterial meningitis cases were fatal; with antibiotic treatment, the fatality rate has dropped to 15 percent or less. Bacterial meningitis is most common in the winter and spring. Three bacteria cause the majority of cases: Haemophilus influenzae, Neisseria meningitidis or Streptococcus pneumoniae.”

Illinois Dept. Public Health-IDPH (https://dph.illinois.gov/topics-services/diseases-and-conditions/diseases-a-z-list/meningitis.html)

 

Meningococcal Meningitis

 

Meningococcal meningitis is a form of meningitis caused by a specific bacterium known as Neisseria meningitidis. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute).

Meningococcal meningitis is a form of meningitis caused by a specific bacterium known as Neisseria meningitidis. Meningitis is characterized by inflammation of the membranes (meninges) around the brain or spinal cord. This inflammation can begin suddenly (acute) or develop gradually (subacute). Symptoms may include fever, headache, and a stiff neck, sometimes with aching muscles. Nausea, vomiting and other symptoms may also occur. Skin rashes occur in about half of all individuals with meningococcal meningitis.

Meningococcal meningitis is still associated with a high mortality rate and persistent neurological defects, particularly among infants and young children. Meningococcal meningitis without antibiotic therapy is uniformly fatal.

Meningococcal meningitis evolves when the bacteria, Neisseria meningitidis (N.meningitidis) progresses from initial adherence to the nasopharyngeal (nose and throat) mucosa to invasion of the deeper mucosal layers (the submucosa). These bacteria rapidly multiply, and can lead to a mild (subclinical) infection. However, in approximately 10-20% of cases, the N.meningitidis enters the bloodstream (meningococcemia). This systemic form of the disease, meningococcemia, usually precedes the development of meningococcal meningitis by 24-48 hours.

Key facts

  • Meningitis is a devastating disease with a high case fatality rate and leading to serious long-term complications (sequelae).
  • Meningitis remains a major global public-health challenge.
  • Epidemics of meningitis are seen across the world, particularly in sub-Saharan Africa.
  • Many organisms can cause meningitis including bacteria, viruses, fungi, and parasites.
  • Bacterial meningitis is of particular concern. Around 1 in 10 people who get this type of meningitis die and 1 in 5 have severe complications.
  • Safe affordable vaccines are the most effective way to deliver long-lasting protection

4 main causes of acute bacterial meningitis:

  • Neisseria meningitidis (meningococcus)
  • Streptococcus pneumoniae (pneumococcus)
  • Haemophilus influenzae
  • Streptococcus agalactiae (group B streptococcus)

The WHO World Health Organization states that these bacteria are responsible for more than half of the deaths from meningitis globally and they cause other severe diseases like sepsis and pneumonia; including other bacteria e.g., Mycobacterium tuberculosis, Salmonella, Listeria, Streptococcus and Staphylococcus, viruses such as enteroviruses and mumps, fungi especially Cryptococcus, and parasites like Amoeba are also important causes of meningitis.

Those at Risk:

Although meningitis affects all ages, young children are most at risk. Newborn babies are at most risk from Group B streptococcus, young children are at higher risk from meningococcus, pneumococcus and Haemophilus influenzae. Adolescents and young adults are at particular risk of meningococcal disease while the elderly are at particular risk of pneumococcal disease.

People all over the world are at risk of meningitis. The highest burden of disease is seen in a region of sub-Saharan Africa, known as the African Meningitis Belt, especially recognised to be at high risk of epidemics of meningococcal but also pneumococcal meningitis.

Higher risk is seen when people are living in close proximity, for example at mass gatherings, in refugee camps, in overcrowded households or in student, military and other occupational settings. Immune deficiencies such as HIV infection or complement deficiency, immunosuppression, and active or passive smoking can also raise the risk of different types of meningitis.

 

 

 

 

QUOTE FOR THE WEEKEND:

“With the onset of spring in the Northern Hemisphere, animals that hibernate are waking up from a long-period of deep sleep. They spent the winter hibernating to conserve energy when food was scarce. Animals that hibernate include bats, black bears, Arctic ground squirrels, and common poorwill birds. Many other species such as raccoons and skunks go into a state of torpor during the cold weather, which is a type of light hibernation. Most hibernators wake up during the months of March and April, but some do so as late as May.”

Earth Sky (https://earthsky.org/earth/spring-means-these-4-hibernators-are-waking-up/)

Those creatures waking up from hibernating since last year!

For animals that hibernate, making it to spring is no small feat. Torpor — the state of reduced bodily activity that occurs during hibernation — is not restful. By the time they emerge, hibernating animals are often sleep-deprived: Most expend huge bursts of energy to arouse themselves occasionally in the winter so their body temperatures don’t dip too low. This back-and-forth is exhausting, and hibernators do it with little to no food and water. By winter’s end, some have shed more than half their body weight.

But just because it’s spring doesn’t mean it’s time to celebrate. Spring means getting ready for the full speed of summer — and

With the onset of spring in the Northern Hemisphere, animals that hibernate are waking up from a long-period of deep sleep. They spent the winter hibernating to conserve energy when food was scarce. Animals that hibernate include bats, black bears, Arctic ground squirrels, and common poorwill birds. Many other species such as raccoons and skunks go into a state of torpor during the cold weather, which is a type of light hibernation. Most hibernators wake up during the months of March and April, but some do so as late as May.

This would include the following creatures:

1.) Bats  

Many types of bats hibernate through the long, cold winter in caves. Bats that hibernate include the little brown bat, the big brown bat, and the northern long-eared bat. During hibernation, their body temperature, heart rate, breathing rate, and metabolism drop to very low levels. This allows them to get by without food or water and stay in a dormant state for long periods of time.

Fertilization happens a few days after females emerge from hibernation. After leaving their winter caves, they move to a large tree or another cave. “They want a warm, stable environment where they can develop their young,” said Joy M. O’Keefe, a bat expert and assistant professor at Indiana State University.

Bats often return to the same maternity spot year after year, sometimes traveling hundreds of miles to get there. Dozens of mothers will congregate at these sites, cuddling to keep warm. When their pups are born, 50 to 60 days later, mothers may help each other by taking turns foraging for insects and roosting with the group.  With no parenting responsibilities, and perhaps to avoid competing with the females, males will stay in torpor for longer — making their hibernation spaces real man caves in the spring.

As spring arrives, so do bats! Many naturalists state during this season looking for migrating salamanders and blossoming bloodroot.   They never thought much about what bats are doing this time of year.

It turns out these flying mammals, who retreated into hibernation back in the fall, are emerging from April through May, as the weather grows consistently warmer and insects again fill the air.

2.) Bears

When spring arrives and the snow begins to melt, bears start to wake up after months of hibernation. It is an exciting time of the year for bears and park visitors. When bears emerge from their dens, understandably hungry, they immediately begin to search for food. And there is plenty to eat.  Receding snow reveals vegetation rich in nutrients. Winter kill – deer, elk, moose or anything else that may fancy a bear’s taste buds, are easy pickings. It’s an important time of the year for a bear as it begins the process of nourishing itself, continually gorging on food throughout the year in preparation for hibernation in the fall.  For visitors beginning their spring and summer vacations, the emergence of bears means a chance to see a bruin in its natural habitat, its home. But it also means that another food source presents itself to bears – the food you may accidentally (or intentionally) leave behind or provide. Storing your food and disposing of garbage properly can mean life or death to a bear. Be sure to always properly store food in bear country. 

One of the many reasons people visit national parks with bears is to experience a wild place capable of supporting healthy populations of black and grizzly bears. When visitors become careless and do not properly store their food, bears are undoubtedly going to find it; their sense of smell is amazing. When visitors feed bears, it’s a recipe for trouble. If bears become used to approaching people and eating human food (we call that habituation), the bear no longer seeks the natural food it is supposed to be foraging for. This creates a management and safety problem for park visitors and bears. While park staff work to manage bears and visitors, sometimes there is a need to remove a bear from a park. Imagine what that does to the ecosystem and your experience as a visitor coming to see a bear. For many, it means the park experience is diminished, and the ecosystem isn’t as intact.

When we visit a park with bears, we are entering their home. As guests, proper behavior and etiquette on our part can contribute to a safe and enjoyable visit for us as our hosts.

3.) Arctic Squirrels: 

Arctic ground squirrels are the largest of the North American ground squirrel species, ranging from 524 up to 1,500 grams in weight, and 332 to 495 mm in length. They undergo seasonal changes in body mass and lose weight during hibernation. They exhibit sexual dimorphism, with males being larger than females. Body mass drastically varies seasonally, between summer foraging bouts and winter hibernation. They have tawny brown coloration with white flecks on the dorsal side of the pelage and a light tan or beige coloration on their undersides. Their undersides lighten during winter months.

During the onset of cold weather, Arctic ground squirrels dig deep burrows in the ground and hibernate. One scientist attached temperatures sensors to their abdomens and recorded body temperatures in hibernating squirrels as low as -2.9 degrees Celsius (26.8 degrees Fahrenheit), which is below the temperature that water freezes! The squirrel’s blood, however, does not freeze in part because it is salty and also because they have some sort of “super cool” supercooling mechanism that protects them. Scientists are actively researching the brain activity of hibernating Arctic ground squirrels for insights into how to protect people from neurodegenerative diseases like Alzheimer’s and to help them recover from brain injuries. Specifically, the brains of Arctic ground squirrels show a remarkable ability to bounce back after months of dormancy that degrades neuronal connections.

Arctic ground squirrels generally begin hibernation in the beginning of August and wake up in early April, when the males dig their way out from underground.

4.) Common poorwill  

Most birds migrate south when the weather turns cold, but the common poorwill stays put and hibernates. Poorwills are the only bird species known to hibernate. They can be found in the western United States and Canada. Native Americans often referred to this bird as “the sleeping one.”

5.) Torpor = Racco0n and Skunk

Torpor is a state of light hibernation that many animals enter into to survive the winter. Animals that use torpor as a survival strategy include raccoons and skunks. 

While there is no bright line that separates animals that hibernate from those that use torpor, it generally comes down to the length of time that an animal spends in dormancy and the extent to which its body temperature and metabolic rate are depressed. Torpor is associated with brief periods of dormancy, sometimes for only a few hours, and small physiological changes, whereas hibernation is associated with lengthy periods of dormancy and large physiological changes.

6.) Reptiles:

Scientists use the term brumation to refer to hibernating-like states in reptiles,

which are not warm-blooded animals so the physiological responses are a bit different from those in mammals and birds. Insects enter cold-induced dormant periods too, and this is referred to by the term diapause. Often on the internet, the term hibernation will be used as a catch-all phrase for all of these types of dormant states.

The exact triggers that cause an animal to enter into and emerge from hibernation aren’t well known, but combinations of factors such as changes in temperature, daylight, and food availability are thought to play an important role. Especially critical is an animal’s internal biological clock, which will initiate hormone changes when it is time for the animal to wake up.

Bottom line: Hibernation is a survival strategy that animals use during the winter to conserve energy when food is scarce. Animals that hibernate include bats, black bears, Arctic ground squirrels, and common poorwill birds.

QUOTE FOR FRIDAY:

“Prevent Blindness has declared April as Women’s Eye Health and Safety Month in an effort to educate the public on the increased risk for women and vision health issues, as well as steps that can be taken to prevent vision loss.

Two out of every three people living with blindness or vision problems are women according to the National Eye Institute. Women are at greater risk of developing a number of eye conditions, including age-related macular degeneration (AMD), cataracts and glaucoma.

At Texas Retina, we know that women often manage their family’s health and take care of everyone else first. However, it is important that women make their own eye health a priority as early detection and consistent treatment can significantly reduce the risk of vision loss. Here are a few tips:

  • Women 40 and older should have an annual dilated eye exam.
  • They should also see their optometrist or ophthalmologist any time they experience a change in vision.
  • Eat a healthy diet rich in vitamin C, vitamin E, beta carotene, lutein, zeaxanthin, zinc and omega-3 fatty acids. This should include foods such as salmon, broccoli and dark leafy greens.
  • Stay active as regular exercise is known to reduce the risk of eye disease.
  • Protect your eyes from the sun by wearing proper sunglasses that block ultraviolet radiation.
  • Avoid smoking.

Texas Retina (https://www.texasretina.com/2024/04/02/april-is-womens-eye-health-and-safety-month)

Women’s eye health and safety month 2024

Two out of every three people living with blindness or vision problems are women, according to the National Eye Institute. And, data from The Future of Vision: Forecasting the Prevalence and Costs of Vision Problems study shows that women are at higher risk for certain eye diseases and conditions. Prevent Blindness has declared April as Women’s Eye Health and Safety Month in an effort to educate the public on the increased risk for women and vision health issues, as well as steps that can be taken to prevent vision loss.

Women have a higher prevalence of major vision problems, including:

  • Age-related Macular Degeneration
  • Autoimmune Diseases (such as Lupus or Sjögren’s Syndrome)
  • Cataract
  • Dry Eye
  • Glaucoma
  • Low Vision
  • Thyroid Eye Disease
  • Refractive Error

According to the World Health Organization’s World Report on Vision, women, on average, live longer than men, and are thus at greater risk of developing eye conditions associated with ageing. However, even after controlling for age, global estimates suggest that women with moderate and severe presenting distance vision impairment outnumber men by approximately 7 percent.

Gender and financial disparities can also create barriers to eyecare access for women.  A recent study published in JAMA Ophthalmology found that although women were more likely to use eye care, they are also more likely to report difficulty affording eyeglasses than men.

In addition to eye disease and conditions, women have unique health issues related to pregnancy and menopause due to fluctuating hormone levels. Women may notice changes in their ability to see clearly during pregnancy. Women with pre-existing conditions, like glaucoma, high blood pressure or diabetes, need to alert their eye doctor that they are pregnant (or planning to become pregnant). Additionally, dry eye leading to a clinical diagnosis or severe symptoms affects more than 3.2 million American women middle-aged and older.

As ophthalmologists and optometrists re-open their practices temporary closing of the office due to the COVID-19 pandemic, it is important that women make their vision health a priority to help detect vision issues early. Early and consistent treatment for most eye diseases can significantly reduce the risk of vision loss.

QUOTE FOR THURSDAY:

“Head and neck cancers usually begin in the squamous cells that line the mucosal surfaces inside the mouth, nose, throat, and salivary glands. They are often referred to as squamous cell carcinomas of the head and neck.

Head and neck cancers account for nearly 4 percent of all cancers in the United States, according to the National Cancer Institute (NCI).

Counting cancers of the oral cavity, pharynx, and larynx, the NCI estimates that about 66,920 cases occurred in the U.S. in 2023. About 15,400 people died from these diseases, according to the NCI’s Surveillance, Epidemiology and End Results (SEER) program.

Head and neck cancer is more common among men than women. These cancers are also diagnosed more often among people over age 50 than among younger people.

Symptoms of head and neck cancers may include a lump or a sore that doesn’t heal. In addition, symptoms can include sore throat that doesn’t go away, difficulty in swallowing, and a hoarse voice.

Alcohol and tobacco use are major risk factors for head and neck cancers. Also, infection with cancer-causing types of human papillomavirus (HPV) increases a person’s risk of certain head and neck cancers.”

American Association for Cancer Research – AACR (https://www.aacr.org/patients-caregivers/awareness-months/head-and-neck-cancer-awareness-month/)

Oral, Head, and Neck Cancer Month Awareness!

 

 

  ORAL CANCER RECONCONSTRUCTION SURVIVORS

KNOW THE SYMPTOMS

Most oral, head, and neck cancers begin in the cells that make up the moist tissues (mucosal surfaces) of the head and neck, including in the mouth, nose, and throat. Like other cancers, oral, head, and neck cancers occur when abnormal cells begin to grow and divide uncontrollably and form a mass, called a malignant tumor.

The National Cancer Institute estimates that 85 percent of oral, head, and neck cancers are linked to tobacco use. Men (age 50 or older) who use both tobacco and alcohol are at the highest risk.

Cancers of the brain, eye, thyroid, as well as the skin, bones, muscles and nerves of the head and neck are not included under the heading of “oral, head and neck” cancer.

Doctors identify oral, head, and neck cancers by the area in which the cancer begins:

Lip and oral cavity cancer occurs on the lips, the front two-thirds of the tongue, the gums, the lining of the cheeks and lips, the floor of the mouth under the tongue, the palate, and the area behind the wisdom teeth.

Where does oral cancer affect:

Oral cancer (mouth cancer) is the broad term for cancer that affects the inside of your mouth. Oral cancer can look like a common problem with your lips or in your mouth, like white patches or sores that bleed. Oral cancer (mouth cancer) is the most common form of head and neck cancer. It typically affects people age 60 and older. Oral cancer affects your lips and the first parts of your tongue, mouth roof and floor. It also affects your oropharynx — the last part of your tongue and roof of your mouth, your tonsils, the sides and back of your throat that can include your sinuses, and pharynx (throat). The difference between a common problem and potential cancer is these changes don’t go away. Left untreated, oral cancer can spread throughout your mouth and throat to other areas of your head and neck. Approximately 63% of people with oral cavity cancer are alive five years after diagnosis.

 It can be life-threatening if not diagnosed and treated early.

When it is caught early, like other cancers is much easier for doctors to treat when caught early. Yet most people get a diagnosis when their condition is too advanced to treat effectively. If you see your dentist or doctor regularly and learn how to spot suspicious changes, you’ll have a much better shot at an early diagnosis.

Overall, about 11 people in 100,000 will develop oral cancer during their lifetime. Men are more likely than women to develop oral cancer. People who are white are more likely to develop oral cancer than people who are Black.

Risk factors in developing oral cancer include:

  • Smoking. Cigarette, cigar, or pipe smokers are six times more likely than nonsmokers to develop oral cancers.
  • Smokeless tobacco use. Users of dip, snuff, or chewing tobacco products are 50 times more likely to develop cancers of the cheek, gums, and lining of the lips.
  • Excessive consumption of alcohol. Oral cancers are about six times more common in drinkers than in nondrinkers.  Using alcohol and tobacco together increases your chances even more.
  • Family history of cancer.
  • Excessive sun exposure, especially at a young age. Ultraviolet radiation from the sun can cause lip cancers.
  • Human papillomavirus (HPV). Certain HPV strains are etiologic risk factors for Oropharyngeal Squamous Cell Carcinoma (OSCC). Almost everyone who’s sexually active will get HPV at some point in life. A specific type of this virus is causing a growing number of otherwise healthy men under 50 to get cancers in the back of their mouths and throats from oral sex. The more people you and your partners have sex with, the bigger your risk.
  • Age. Oral cancers can take years to grow. Most people find they have it after age 55. But more younger men are getting cancers linked to HPV.
  • Gender. Men are at least twice as likely as women to get oral cancer. It could be because men drink and smoke more than women do.
  • Poor diet. Studies have found a link between oral cancer and not eating enough vegetables and fruits.

It is important to note that over 25% of all oral cancers occur in people who do not smoke and who only drink alcohol occasionally.

The overall 5-year survival rate for patients with an early diagnosis of oral cavity and pharynx cancers is 84%. If the cancer has spread to nearby tissues, organs, or lymph nodes, the 5-year survival rate drops to 65%.

How it is diagnosed?

As part of your routine dental exam, your dentist will conduct an oral cancer screening exam.  Your dentist knows what a healthy mouth should look like and probably has the best chance of spotting any cancer. Experts recommend getting checked every year starting at age 18, and sooner if you start smoking or having sex.

More specifically, your dentist will feel for any lumps or irregular tissue changes in your neck, head, face, and oral cavity. When examining your mouth, your dentist will look for any sores or discolored tissue as well as check for any signs and symptoms mentioned above.

A biopsy may be needed to determine the makeup of a suspicious-looking area. There are different types of biopsies and your doctor can determine which one is best.

Treatments:

It varies from person to person depending on the stage of oral cancer the person has and how advanced the cancer is.

Whether a patient has surgery, radiation, and surgery, or radiation, surgery, and chemotherapy, you need to remember it depends on the stage of cancer development. Each case is individual.

Patients with cancers treated in their early stages may have little in the way of post-treatment disfigurement. For those whose cancer is caught at a later stage, the results of surgical removal of the disease may require reconstruction of portions of their oral cavity or facial features. There may be needed adjunctive therapy to assist in speech, chewing of foods, the problems associated with the lack of salivary function, and the fabrication of dental or facial prostheses.

 

QUOTE FOR WEDNESDAY:

“In 1986, President Reagan recognized March as “National Hemophilia Month” which has since been changed to #BleedingDisordersAwarenessMonth to be inclusive of all #bleedingdisorders. We’ll be posting facts throughout the month to honor our history and raise awareness about all #bleedingdisorders. Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.

World Federation of Hemophilia – WFH (https://www.hemophiliafed.org/resource/bleeding-disorders-awareness-month/)

April Awareness on Hemophilia.

hemophilia3hemophilia2

hemophilia1hemodialysis explained

What is this condition?

Hemophilia is a bleeding disorder characterized by low levels of clotting factor proteins. Correct diagnosis of Hemophilia is essential to providing effective treatment. Blood Center of Wisconsin offers one of the largest diagnostic menus to accurately and confidently diagnose Hemophilia.

The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner.  Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.

But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. Hemophilia can occur in daughters, but is rare.

For a female carrier, there are four possible outcomes for each pregnancy:

  1. A girl who is not a carrier
  2. A girl who is a carrier
  3. A boy without hemophilia
  4. A boy with hemophilia

Hemophilia is an X-linked inherited bleeding disorder caused by mutation of the F8 gene that encodes for coagulation factor VIII or the F9 gene that encodes for coagulation factor IX. The degree of plasma factor deficiency correlates with both the clinical severity of disease and genetic findings. Severe hemophilia is characterized by plasma factor VIII or factor IX levels of under 1 IU/dl. Moderate and mild hemophilia are characterized by factor VIII or factor IX levels of 1-5 IU/dL or 6 – 40 IU/dL, respectively. Genetic analysis is useful for identification of the underlying genetic defect in males with severe, moderate or mild hemophilia and for determination of carrier status in the female individuals within their families. Additionally, data is emerging regarding the correlation between a patients mutation status and the risk of that patient developing an inhibitor.

People with hemophilia A often, bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts, dental procedures or trauma. How frequently a person bleeds and the severity of those bleeds depends on how much FVIII is in the plasma, the straw-colored fluid portion of blood.

Normal plasma levels of FVIII range from 50% to 150%. Levels below 50%, or half of what is needed to form a clot, determine a person’s symptoms.

  • Mild hemophilia A-  6% up to 49% of FVIII in the blood. People with mild hemophilia Agenerally experience bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not diagnosed until an injury, surgery or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.
  • Moderate hemophilia A. 1% up to 5% of FVIII in the blood. People with moderate hemophilia A  tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes.
  • Severe hemophilia A.  <1% of FVIII in the blood. People with severe hemophilia A experience bleeding following an injury and may have frequent spontaneous bleeding episodes, often into their joints and musclesHemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity.Genetic testing is usually used to identify women who are carriers of a FVIII or FIX gene mutation, and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B.There is currently no cure for hemophilia. Treatment depends on the severity of hemophilia.People who have moderate to severe hemophilia A or B may need to have an infusion of clotting factor taken from donated human blood or from genetically engineered products called recombinant clotting factors to stop the bleeding. If the potential for bleeding is serious, a doctor may give infusions of clotting factor to avoid bleeding (preventive infusions) before the bleeding begins. Repeated infusions may be necessary if the internal bleeding is serious. When a person who has hemophilia has a small cut or scrape, using pressure and a bandage will take care of the wound. An ice pack can be used when there are small areas of bleeding under the skin.
  • When bleeding has damaged joints, physical therapy is used to help them function better. Physical therapy helps to keep the joints moving and prevents the joints from becoming frozen or badly deformed. Sometimes the bleeding into joints damages them or destroys them. In this situation, the individual may be given an artificial joint.
  • Treatment may involve slow injection of a medicine called desmopressin (DDAVP) by the doctor into one of the veins. DDAVP helps to release more clotting factor to stop the bleeding. Sometimes, DDAVP is given as a medication that can be breathed in through the nose (nasal spray).
  • Diagnosing this condition:
  • Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing.
  • Treatment of the condition:
  • Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing mutation in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing mutations in more than 99 percent of individuals who have hemophilia B.
  • Researchers have been working to develop a gene replacement treatment (gene therapy) for Hemophilia A. Research of gene therapy for hemophilia A is now taking place. The results are encouraging. Researchers continue to evaluate the long-term safety of gene therapies. The hope is that there will be a genetic cure for hemophilia in the future.