“GBS can affect anyone of any sex or age, but most often affects adults and people older than 50. GBS is not contagious or inherited and the exact cause is unknown.

Since the body’s own immune system does the damage, GBS is called an autoimmune disease (“auto” meaning “self”). Normally the immune system uses antibodies (molecules produced in an immune response) and special white blood cells to protect us by attacking infecting bacteria and viruses. In GBS, however, the immune system mistakenly attacks the healthy nerves. This attack may start as a fight against an infection. One possible reason for this is that some chemicals seen on bacteria and viruses resemble those on nerve cells. The immune system may not be able to distinguish bacteria and viruses from healthy nerve cells which also become targets of attack.”

(Guillain-Barré Syndrome | National Institute of Neurological Disorders and Stroke)

Understanding how nerve damage occurs:

Various ideas have been proposed to explain how GBS develops. One explanation is known as the “molecular mimicry/innocent bystander” theory. According to this explanation, molecules on some nerves are very similar to or mimic molecules on some microorganisms. When those microbes infect someone, the immune system correctly attacks them. And if the microbe and myelin look similar, the immune system makes a mistake and attacks the myelin.

Different mechanisms may explain how the molecular mimicry concept may work.  When Guillain-Barré syndrome is preceded by a viral or bacterial infection, it is possible that the infecting agent has changed the chemical structure of some nerves. The immune system treats these nerves as foreign bodies and mistakenly attacks them. It is also possible that the virus makes the immune system itself less discriminating and no longer able to recognize its own nerves. Some parts of the immune system—special white blood cells called lymphocytes and macrophages—perceive myelin as a foreign body and attack it. Specialized white blood cells called T lymphocytes (from the thymus gland) cooperate with B lymphocytes (that originate in bone marrow) to produce antibodies against the person’s own myelin and damage it.

In some forms of GBS, antibodies made by the person to fight a Campylobacter jejuni bacterial infection attack axons in the motor nerves. This causes acute motor axonal neuropathy, which is a variant of GBS that includes acute paralysis and a loss of reflexes without sensory loss. Campylobacter infections can be caused by ingesting contaminated food or from other exposures. The infected person’s body then makes antibodies against Campylobacter. Some Campylobacter molecules resemble molecules in the person’s nerve axons, so when the person’s antibodies fight the Campylobacter bacteria they also attack the look-alike axons. This slows nerve conduction and causes paralysis. Scientists are investigating various GBS subtypes to find why the immune system reacts abnormally in this syndrome and other autoimmune diseases.

Guillian Barre Syndrome (GBS) is associated with cranial nerve involvement. Commonest cranial nerves involved were the facial and bulbar (IXth and Xth)  .Guillian Barre Syndrome (GBS) is associated with cranial nerve involvement. Most common cranial nerves involved are the facial and bulbar (IXth and Xth). Involvement of twelfth cranial nerve is rare in GBS.  Your hypoglossal nerve is the 12th cranial nerve which is responsible for the movement of most of the muscles in your tongue. It starts in the medulla oblongata and moves down into the jaw, where it reaches the tongue. . 

What disorders are related to GBS?

Guillain-Barré syndrome is one of several disorders involving weakness due to peripheral nerve damage caused by the person’s immune system. While GBS comes on rapidly over days to weeks, and the person usually recovers, other disorders develop slowly and can linger or recur.

The most common type of GBS seen in the United States is acute inflammatory demyelinating polyneuropathy (AIDP). In AIDP, the immune response damages the myelin coating and interferes with the transmission of nerve signals. In two other types of Guillain-Barré syndrome, acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), the axons themselves are damaged by the immune response.

Miller-Fisher syndrome is a rare, acquired nerve disease that is a variant of Guillain-Barré syndrome. It is characterized by abnormal muscle coordination with poor balance and clumsy walking, weakness or paralysis of the eye muscles, and absence of the tendon reflexes. Like GBS, symptoms may follow a viral illness. Additional symptoms include generalized muscle weakness and respiratory failure. Most individuals with Miller Fisher syndrome have a unique antibody that characterizes the disorder.

Related peripheral nerve disorders with slow onset and persisting or recurrent symptoms include chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy. CIDP features weakness that can recur, repeatedly, over the course of years. Multifocal motor neuropathy typically affects many different muscles in a small part of a limb or limbs. Usually the symptoms are more severe on one side of the body.

Stay tune for Part III on GBS regarding how its diagnosed and the Rx including rehab.

“Key facts:

-Guillain-Barré syndrome (GBS) is a rare condition in which a person’s immune system attacks the peripheral nerves.

-People of all ages can be affected, but it is more common in adults and in males.

-Most people recover fully from even the most severe cases of Guillain-Barré syndrome.

-Severe cases of Guillain-Barré syndrome are rare but can result in near-total paralysis and problems breathing.

-Guillain-Barré syndrome is potentially life-threatening. People with Guillain-Barré syndrome should be treated and monitored as quickly as possible; some may need intensive care.”

World Health Organization
https://www.who.int/news-room/fact-sheets/detail/guillain-barr%C3%A9-syndrome

Guillain-Barré syndrome (GBS) is a rare neurological disorder in which the body’s immune system mistakenly attacks part of its peripheral nervous system—the network of nerves located outside of the brain and spinal cord. GBS can range from a very mild case with brief weakness to nearly devastating paralysis, leaving the person unable to breathe independently. Fortunately, most people eventually recover from even the most severe cases of GBS. After recovery, some people will continue to have some degree of weakness.

Guillain-Barré syndrome can affect anyone. It can strike at any age (although it is more frequent in adults and older people) and both sexes are equally prone to the disorder. GBS is estimated to affect about one person in 100,000 each year.

Causes of GBS:

The exact cause of GBS is not known. Researchers don’t know why it strikes some people and not others. It is not contagious or inherited.

What they do know is that the affected person’s immune system begins to attack the body itself. It is thought that, at least in some cases, this immune attack is initiated to fight an infection and that some chemicals on infecting bacteria and viruses resemble those on nerve cells, which, in turn, also become targets of attack. Since the body’s own immune system does the damage, GBS is called an autoimmune disease (“auto” meaning “self”). Normally the immune system uses antibodies (molecules produced in an immune response) and special white blood cells to protect us by attacking infecting microorganisms (bacteria and viruses). In Guillain-Barré syndrome, however, the immune system mistakenly attacks the healthy nerves.

Most cases usually start a few days or weeks following a respiratory or gastrointestinal viral infection. Occasionally surgery will trigger the syndrome. In rare cases vaccinations may increase the risk of GBS. Recently, some countries worldwide reported an increased incidence of GBS following infection with the Zika virus.

Symptoms of GBS:

Unexplained sensations often occur first, such as tingling in the feet or hands, or even pain (especially in children), often starting in the legs or back. Children will also show symptoms with difficulty walking and may refuse to walk. These sensations tend to disappear before the major, longer-term symptoms appear.  Weakness on both sides of the body is the major symptom that prompts most people to seek medical attention. The weakness may first appear as difficulty climbing stairs or with walking. Symptoms often affect the arms, breathing muscles, and even the face, reflecting more widespread nerve damage. Occasionally symptoms start in the upper body and move down to the legs and feet.

Most people reach the greatest stage of weakness within the first two weeks after symptoms appear; by the third week 90 percent of affected individuals are at their weakest.

In addition to muscle weakness, symptoms may include:

• Difficulty with eye muscles and vision
• Difficulty swallowing, speaking, or chewing
• Pricking or pins and needles sensations in the hands and feet
• Pain that can be severe, particularly at night
• Coordination problems and unsteadiness
• Abnormal heart beat/rate or blood pressure
• Problems with digestion and/or bladder control.

These symptoms can increase in intensity over a period of hours, days, or weeks until certain muscles cannot be used at all and, when severe, the person is almost totally paralyzed. In these cases, the disorder is life-threatening—potentially interfering with breathing and, at times, with blood pressure or heart rate.

Stay tune for Part II on GBS tomorrow to learn more about this syndrome!

“I started running four years ago to quit smoking. Now, I run to show my son, Fritz, that you can do anything you set your mind to, so long as you are willing to keep putting one foot in front of the other. Team NDSS has been a great way for me to help NDSS continue their important work for our kiddos and family members. Wearing NDSS gear at local races here in Arkansas has given me a chance to talk to other runners, dispel myths about Down syndrome and promote the work of NDSS.”— Chris Attig

National Down Syndrome Society (ndss)

What is Down Syndrome?

October was first designated as Down Syndrome Awareness Month in the 1980s and has been recognized every October since. It is a time to celebrate people with Down syndrome and make others aware of their abilities and accomplishments.

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small hands and feet
• A single line across the palm of the hand (palmar crease)
• Small pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

• Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome.² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

• The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
• One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

• Chorionic villus sampling (CVS)—examines material from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Other Health Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep
• Ear infections
• Eye diseases
• Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

“About 75% of the 2 million brain injuries yearly accounts for a closed brain injury. This means that nothing directly touches the brain. Not all brain injuries are the same; they differ from their severity. Others may appear minor but later on, significant symptoms can appear.

A closed brain injury can come from a sharp blow in the head that shakes and traumatize the brain. A common example is a concussion. Since it is closed, the extent of the injury cannot be identified immediately by the naked eye.

This type of head injury can be caused by falls, sports, vehicular accidents, and acts of violence. About 35.2% of closed head injury is caused by fall. Falls are common to toddlers and kids and elderly.

Open head injuries are considered serious and traumatic. They require medical help immediately. Due to the open wound, patients can suffer from infection and contamination.”

Brain Injury Institute

(Brain Injury Types | Brain Injury Institute  www.braininjuryinstitute.org)

A Brain Injury is damage to the brain that results in a loss of function such as mobility or feeling.  Brain injury can also cause cognitive dysfunction.

Traumatic Brain Injuries can result from a closed head injury or a penetrating head injury.

There are two broad types of head injuries: Penetrating and non-penetrating.

1. Penetrating Injury: A penetrating injury occurs when an object pierces the skull and enters brain tissue. As the first line of defense, the skull is particularly vulnerable to injury. Skull fractures occur when the bone of the skull cracks or breaks. A depressed skull fracture occurs when pieces of the broken skull press into the tissue of the brain. A penetrating skull fracture occurs when something pierces the skull, such as a bullet, leaving a distinct and localized injury to brain tissue. Skull fractures can cause cerebral contusion. Brain trauma occurs when a person has an injury to the brain, and can be mild or severe. When a person sustains trauma or injury to the brain, he or she may lose motor functions along with cognitive and physical abilities. Physicians use the Glasgow Coma Scale to determine the extent of brain trauma. This is a neurological scale that measures the level of a person’s consciousness.  A mild injury may cause temporary symptoms, like a concussion; while a severe injury could require years of rehabilitation, like a stoke or tumor.
2. Closed Injury:  A closed injury occurs when the head suddenly and violently hits an object but the object does not break through the skull. It is caused by an external force strong enough to move the brain within the skull. Causes include falls, motor vehicle crashes, sports injuries, blast injury, or being struck by an object.

There are two most common types of brain trauma, which are:

1. traumatic brain injuries  2. acquired brain injuries.

1-Traumatic brain injury

This occurs from external force on the head or neck. These injuries can occur from blows to the head or aggressive twisting of the neck. Some ways this could happen include falls, motor vehicle accidents, sports, and vigorous shaking. In infants, Shaken Baby Syndrome is a type of traumatic brain injury.

2-Acquired brain injury

This means simply you got this injury after you were born and it was caused by a condition or illness after birth. This type of injury can result from several different causes like strokes, toxic poisoning or brain tumors. Degenerative diseases and lack of oxygen may also cause this type of brain trauma. Here are some examples of acquired brain injuries:

-Bleeding in the brain which can lead to brain injury. Blood Vessels in the brain can rupture resulting in an intra-cerebral hemmorage (one of the causes of a stroke). Symptoms may include headaches, loss of vision, weakness to one side of the body and eye pain to even garbled speech.

-Anoxia is another insult to the brain that can cause injury to it. Anoxia is a condition in which there is an absence of oxygen supply to an organ’s tissues, even if there is adequate blood flow to the tissue.  Common causes of anoxia are near drowning, choking, suffocation, strangulation, heart attacks, lung damage, or very low blood pressure.

–Hypoxia refers to a decrease in oxygen supply rather than a complete absence of oxygen, and ischemia is inadequate blood supply, as is seen in cases in which the brain swells. In any of these cases, without adequate oxygen, a biochemical cascade called the ischemic cascade is unleashed, and the cells of the brain can die within several minutes. This type of injury is often seen in near-drowning victims, in heart attack patients, or in people who suffer significant blood loss from other injuries that decrease blood flow to the brain decreasing oxygen supply to the tissue.

-Toxemia, which is poisoning from chemical or biological factors that can damage the brain. Toxemia can be caused by drugs, chemicals of several types, gases or even toxic foods.

-Viruses or types of bacteria. An infection of the brain can be very damaging; here are some examples:

*Meningitis is a inflammation of the lining around the brain or spinal cord, usually due to infection; Neck stiffness, headache, fever, and confusion are common symptoms.

*Encephalitis (en-sef-uh-LIE-tis) is inflammation of the brain. Viral infections are the most common cause of the condition. Encephalitis can cause flu-like symptoms, such as a fever or severe headache. It can also cause confused thinking, seizures, or problems with senses or movement.

**HIV can lead to brain injury. HIV, can affect the brain in different ways. HIV-meningoencephalitis is infection of the brain and the lining of the brain by the HIV virus. It occurs shortly after the person is first infected with HIV and may cause headache, neck stiffness, drowsiness, confusion and/or seizures. HIV-encephalopathy (HIV-associated dementia) is the result of damage to the brain by longstanding HIV infection.  It is a form of dementia and occurs in advanced HIV infection. Mild Neurocognitive Disorder is problems with thinking and memory in HIV, however is not as severe as HIV-encephalopathy. Unlike HIV-encephalopathy it can occur early in HIV infection and is not a feature of Aquired Immune Deficiency Syndrome – AIDS.

*Lastly Herpes. There are two types of herpes simplex virus (HSV). Either type can cause encephalitis. HSV type 1 (HSV-1) is usually responsible for cold sores or fever blisters around your mouth, and HSV type 2 (HSV-2) commonly causes genital herpes. Encephalitis caused by HSV-1 is rare, but it has the potential to cause significant brain damage or death.

*Other herpes viruses. Other herpes viruses that may cause encephalitis include the Epstein-Barr virus, which commonly causes infectious mononucleosis, and the varicella-zoster virus, which commonly causes chickenpox and shingles.*Viral infections due to blood sucking insects like mosquitoes and ticks to animals with rabies a rapid progression to encephalitis once symptoms begin. Rabies is a rare cause of encephalitis in the U.S.

When a person is diagnosed with a brain trauma, doctors will decide if rehabilitation is needed. Rehabilitation programs may vary depending on the type of brain injury and estimated recovery time. Treatment usually consists of physical therapy and daily activities. In extreme cases, patients may need to learn how to read and write again.

Therapy for brain trauma typically takes place on an outpatient basis or through an assisted living facility. Therapy may last several weeks, months or even years, and sometimes the patient is not able to make a full recovery.

It may not always be obvious when a person has sustained a brain injury. The patient may have hit his or her head and not have symptoms until a few hours later. Some signs of a possible brain injury are headaches, confusion and loss of memory. If brain trauma is not treated, it could cause permanent damage or death.

Brain injuries can affect the patient and the patient’s family, with emotional and financial hardship. When problems arise with treatment or financial issues, a specialist or brain injury lawyer may need to intervene.

“The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein.

This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called recombinant clotting factors, are made in a laboratory, not from human blood.”

MAYO CLINIC (Hemophilia – Diagnosis and treatment – Mayo Clinic)

Treatment Options for Bleeding Disorders

There are many different types of therapies for bleeding disorders, and new ones are in development. Each person may respond to a treatment in their own way, so it is important to work closely with your hematologist to find a treatment that works for you.

Gene therapy is a way of treating a genetic disease or disorder by providing people with working copies of the gene to correct the disease or disorder. There are different approaches to gene therapy, including gene transfer and gene editing.

Currently, gene therapies for Hemophilia A and Hemophilia B work differently in the body and have different results. It is important that you work with your Hemophilia Treatment Center to learn more about gene therapy, to determine if you are eligible, to make certain you understand the risks and benefits, and to ensure you have the information you need to make the best decision for you.

Factor replacement therapies: Often referred to as “factor,” these products use a molecule that is either similar to natural factor found in humans (recombinant) or use an actual human molecule (plasma derived.) These treatments increase the amount of factor in the body to levels that lead to better clotting, and therefore less bleeding. The therapy is taken intravenously via an injection into a vein. This process is also called “infusion.” There are two types of factor replacement therapies: standard half-life (SHL) and extended half-life (EHL)

• Standard half-life therapies: Standard half-life therapies are used to treat hemophilia A and B, some types of von Willebrand disease, and some rare factor disorders. Dosing can be anywhere from three times a week to every day, depending on the person.
• Extended half-life (EHL) therapies: EHL contains a molecule that has been modified in some way to delay the breaking down of factor in the body. This results in higher levels of factor in the body lasting for longer, resulting in less frequent infusions. How long the factor is effective in the body depends on the person. Extended half-life therapies are mostly used to treat hemophilia A and B.
• Bypassing agents are used to treat bleeds in people with hemophilia with inhibitors. These treatments contain other factors that can stimulate the formation of a clot and stop bleeding.

Non-factor replacement therapies: These products help prevent bleeding or assist in better clotting using other methods in the body besides factor replacement therapy. Non-factor replacement therapies include:

Hemophilia B gene therapy has been approved by the FDA for the treatment of adults with hemophilia B who currently use factor IX (FIX) prophylaxis therapy, or have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

Also used is the following:

• Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. It is known as a factor VIII(8) mimetic because it mimics, or imitates, the way factor VIII(8) works. It brings together factor IX(9) and factor X (10), which allows the blood to clot. Unlike factor replacement therapy, in which the missing factor is injected directly into a person’s vein (called an infusion), emicizumab is given by an injection under the skin, called a subcutaneous injection. Emicizumab was approved by the FDA to treat people with hemophilia A with inhibitors in 2017 and for people with hemophilia A without inhibitors in 2018.
• Desmopressin (DDAVP) is the synthetic version of vasopressin, a natural antidiuretic hormone that helps stop bleeding. In patients with mild hemophilia, it can be used for joint and muscle bleeds, for nose and mouth bleeds, and before and after surgery. It comes in an injectable form and a nasal spray. The manufacturer of DDAVP nasal spray issued a recall of all US products and does not expect to begin resupplying until 2022. DDAVP is used to treat von Willebrand disease and mild hemophilia A.
• Aminocaproic acid (Amicar) prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid. MASAC recommends that a dose of clotting factor be taken first to form a clot, then aminocaproic acid, to preserve the clot and keep it from being broken down prematurely. This can be used to manage bleeding in people with hemophilia A, B and VWD.
• 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.
• HEMGENIX, came about 2023,it is a adeno-associated virus vector-based gene therapy indicated for treatment of adults with Hemophilia B (congenital Factor IX deficiency) who:
  • Currently use Factor IX prophylaxis therapy, or
  • Have current or historical life-threatening hemorrhage, or
  • Have repeated, serious spontaneous bleeding episodes.