Home Health and Diseases Hemophilia: A Rare Disease That Stops Blood Clotting

Hemophilia: A Rare Disease That Stops Blood Clotting

by Stephen Pantazopoulos

Hemophilia, or Haemophilia, is a rare bleeding disorder in which the blood does not clot properly. People with hemophilia can have episodes of bleeding, often into their joints or muscles. This can cause pain, swelling, and long-term joint damage. The severe variation is present in more than half of haemophilia A diagnoses. The occurrence of haemophilia A is four times that of haemophilia B. Every race and ethnicity is impacted by haemophilia.

Hemophilia is caused by a mutaticcccon in a gene that helps the blood to clot. There are three types of Haemophilia, depending on which gene is affected. People with hemophilia A have a mutation in the F8 gene, while people with hemophilia B have a mutation in the F9 gene. And haemophilia C have a mutation in the F11 gene.

Hemophilia is a lifelong condition that is currently incurable. However, there are treatments available that can help to manage the symptoms and prevent bleeds. With early diagnosis and treatment, people with hemophilia can lead normal, active lives.

Haemophilia Disease is a rare bleeding condition that causes blood to clot improperly. People with hemophilia may bleed for a longer time than others after an injury. Hemophilia can also cause internal bleeding, which can damage organs and tissues. Duration of bleed can vary significantly from person to person and can also depend on a number of factors, such as severity of the disease, whether or not a person takes clotting factors, and other medical conditions.

Hemophilia A Rare Disease

Hemophilia is usually inherited, which means it is passed down from parent to child. In some cases, Haemophilia can occur if there is a spontaneous mutation, or change, in a gene.


Types of Haemophilia

There are three types of Haemophilia: Haemophilia A, Haemophilia B and Haemophilia C.

Haemophilia A

Hemophilia A, also called classic Haemophilia, is the most common type. Haemophilia A is more common, affecting about 1 in 5,000 people. People with hemophilia A have a deficiency of clotting factor VIII, which is necessary for proper blood clotting. This can lead to excessive bleeding, even from minor injuries. Hemophilia A is a serious condition that can be life-threatening.

There is no cure for hemophilia A, but there are treatments available to help manage the condition. With proper treatment, people with hemophilia A can lead normal, healthy lives.

Haemophilia B

Hemophilia B, also called Christmas disease. Haemophilia B is less common, affecting about 1 in 25,000 people. Haemophilia is usually inherited, which means it is passed down from parent to child. In some cases, hemophilia can occur if there is a spontaneous mutation, or change, in a gene.

If you or someone you know has hemophilia B, there are many resources available to help you manage the condition and live a healthy, happy life.

Haemophilia C

Hemophilia C, also called Rosenthal syndrome, is the least common. Haemophilia C is the least common, affecting about 1 in 100,000 people. People with hemophilia C have a deficiency of Factor XI, which is a protein that helps the blood clot. This can lead to excessive bleeding, even from minor cuts or injuries.

There is no cure for haemophilia C, but treatment can help to manage the symptoms and reduce the risk of complications. If you or someone you know has been diagnosed with hemophilia C, there are many resources available to help you understand the condition and how to best manage it.

Both A and B can be-


This type of hemophilia is characterized by a milder form of the bleedng disorder, which often manifests itself in nosebleeds, easy bruising, and heavy menstrual bleeding in women. A mild type of haemophilia affects about 25% of those who have it.


If you have moderate haemophilia, bleeding typically happens after minor wounds; uncontrolled bleeding without a clear reason may occasionally happen, although it is unusual. A moderate type of haemophilia affects 15% of those who have it.


Severe hemophilia is a rare, inherited blood disorder in which the blood does not clot properly. This can cause them to bleed for a long time after an injury, and they may have frequent and severe bleeds inside their joints and muscles. A severe type of haemophilia affects about 60% of those who have it.


Duration of Hemophilia

Hemophilia is considered to be a life-long condition, and patients typically experience episodes of bleeding for the rest of their lives.

In general, people with hemophilia bleed for about twice as long as people without the disorder. Still, many patients pass away before reaching adulthood as a result of poor care.

If treated properly, life expectancy is only roughly 10 years lower than that of healthy men.

However, each person is unique. What applies to one individual with haemophilia may not apply to another. Ask your healthcare professional what to expect if you or your child has haemophilia. They are your finest source of information because they are familiar with you or your child’s condition, including general health.


Causes of Hemophilia

The most common form of Hemophilia A is hereditary and is passed down through families. Hemophilia A can also be acquired, which is when the factor VIII deficiency develops after a person has been treated for other blood clotting disorders. Haemophilia A can be fatal if not treated, and patients typically require regular blood transfusions to prevent serious bleeding.

There are many different causes of hemophilia B, but the most common is an inherited mutation in the F9 gene. This gene provides instructions for making a protein called factor IX, which is a key component of the blood-clotting process. In people with hemophilia B, the factor IX protein is either missing or doesn’t work properly.

Haemophilia C is characterized by a lack of clotting factors XI and differs from haemophilia A and B in that it does not cause joint hemorrhage.

Why Males Are More Prone to Haemophilia Than Females

An inherited X-linked recessive characteristic, with the faulty gene situated on the X chromosome, is what causes haemophilia A. The X chromosome appears twice in the female genome. Therefore, if the gene for factor VIII on one chromosome is inactive, the gene on the other chromosome can produce enough factor VIII.

Men only possess one X chromosome. A kid will have haemophilia A if the factor VIII gene is lacking on his X chromosome. Because of this, men make up the majority of haemophilia A patients.

A woman is regarded as a carrier if she possesses a faulty factor VIII gene. This implies that her offspring may inherit the faulty gene. There is a 50% probability that boys born to such women would have hemophilia A. 50% of their daughters are likely to carry the gene. All female offspring of haemophiliac men carry the faulty gene.

Healthy Cells

Risk Factors of Hemophilia

There are many different risk factors for developing hemophilia A, and some of them are more well-known than others. One of the most common risk factors is having a family history of the condition. If someone in your family has Haemophilia A, you have a much higher chance of developing it yourself. Other risk factors include being male (as hemophilia A is much more common in men than women), being of Caucasian descent, and having certain other medical conditions that can increase your risk.

There are a number of risk factors for hemophilia B, including family history, age, and ethnicity. People with a family history of Haemophilia B are more likely to develop the condition, as it is passed down genetically. hemophilia B is also more common in older adults and in people of Ashkenazi Jewish descent.

Hemophilia can be acquired through genetic mutations or acquired as a result of another health condition, such as diabetes.


Symptoms of Hemophilia

Hemophilia is a genetic illness that causes your blood to clot irregularly. If you have hemophilia, you may bleed for a longer period of time following an accident than others. You also may bleed inside your body, especially in your joints and muscles.

The most common symptom of hemophilia A is bleeding into the joints, which can cause pain, swelling, and eventually deformity. Bleeding into the muscles can also cause pain and weakness. Other symptoms include:

  • -Nosebleeds
  • -Blood in the urine or stool
  • -Prolonged bleeding from cuts or scrapes
  • -Heavy menstrual bleeding

The symptoms of hemophilia B depend on how much factor IX is in your blood. People with mild Haemophilia B may not have any symptoms. People with severe hemophilia B can have spontaneous bleeding or bleeding that happens after an injury or surgery.

  • Spontaneous bleeding can occur in the joints, muscles, or internal organs. This can cause pain, swelling, and long-term damage. Bleeding in the brain can cause headaches, seizures, or a change in mental status.

Haemorrhages are more common in hemophilia C patients following severe surgery or injury. People with haemophilia C, on the other hand, may experience symptoms that are similar to those of other types of haemophilia.


Diagnosis of Hemophilia

There are a few ways to go about diagnosing hemophilia A. The most common method is to take a blood sample and test it for clotting factor VIII levels. If the level is low, it’s likely you have hemophilia A. Other tests may be needed to confirm the diagnosis.

There are many ways to diagnose hemophilia B. The most common way is to do a blood test. This will show if there is a deficiency in factor IX. Other tests include a clotting time test and a factor IX activity test. A bone marrow test may also be done to check for the presence of factor IX.

Prolonged activated partial thromboplastin time(aPTT) is the main factor in the diagnosis of hemophilia C. You’ll discover that the person’s blood contains less factor XI.


Treatment for Hemophilia

People with haemophilia can minimize certain serious complications by receiving high-quality healthcare services from experienced physicians and nurses.

Treatment usually requires between 12 and 16 infusions per year. Some people with hemophilia A require more than one infusion per day.


Clotting Factor Products

In order for the blood to clot properly, replacing the missing blood clotting factor is the best approach to treat haemophilia. Clotting factor concentrates are frequently injected into the patient’s vein as a medicinal substance. There are two major variants of clotting factor concentrates:

Plasma-derived Factor Concentrates

Plasma-derived factor concentrates are a type of blood product that can be used to treat a variety of conditions. They are made by separating plasma (the liquid portion of blood) from whole blood and then concentrating the desired factors.

Plasma-derived factor concentrates can be used to treat conditions such as hemophilia, von Willebrand disease, and other bleeding disorders. They can also be used to treat certain immune deficiencies and to prevent bleeding during surgery.

Plasma-derived factor concentrates are generally safe, but there is a small risk of transmitting infections such as HIV or hepatitis.

Recombinant Factor Concentrates

Recombinant Factor Concentrates (RFCs) are a new class of drugs that are being developed to treat a variety of conditions. RFCs are made by combining genes from different organisms to create a new protein that can be used to treat a disease.

There are a number of advantages to using RFCs over traditional drugs. RFCs can be tailored to specifically target a disease, which means that they are less likely to cause side effects. Additionally, RFCs can be produced in large quantities and are relatively inexpensive to produce.

Gene Therapy

There are many different types of gene therapy, but all involve using a “vector” to deliver a therapeutic gene into a patient’s cells. The vector is usually a virus that has been genetically engineered to carry the therapeutic gene. Once the vector carrying the therapeutic gene enters the patient’s cells, the therapeutic gene is inserted into the patient’s DNA. The therapeutic gene then instructs the cells to produce a protein that corrects the underlying genetic defect.

The first gene therapy clinical trial for hemophilia was conducted in 1990. This early clinical trial used a retrovirus as the vector to deliver the therapeutic gene into the patient.

The gene therapy medicine etranacogene dezaparvovec, sold under the brand name Hemgenix, has received FDA approval to treat the severe congenital bleeding condition Haemophilia B. The medication will be administered to those who are receiving factor IX prophylactic therapy, have experienced or are experiencing life-threatening haemorrhage, or who frequently experience spontaneous bleeding.

The drug is the most costly medication in the world, with a price tag of USD 3.5 million per treatment set by the Australian manufacturer CSL Behring.

Haemophilia Cells

Other Treatment Products:


Hemlibra or ACE 910 or emicizumab is a new and exciting treatment option for people with hemophilia A. It is the first treatment of its kind, and has been shown to be effective in reducing bleeds and improving quality of life. Hemlibra is a self-injectable medication that is taken once a week, and can be used in people of all ages. It is a convenient and easy to use treatment, and has been shown to be safe and well tolerated.

DDAVP or Stimate

DDAVP (desmopressin acetate) is a man-made form of a hormone that occurs naturally in the pituitary gland. DDAVP is used to treat mild, moderate, or severe hemophilia A. It works by helping your blood to clot.

DDAVP is also used to treat von Willebrand’s disease, another blood clotting disorder.

Amicar (Epsilon Amino Caproic Acid)

Amicar is a medication used to treat and prevent bleeding in people with hemophilia. It works by replacing a missing protein in the blood that helps to clot. Amicar is given as an injection into a vein or muscle.

People with hemophilia often experience bleeding episodes, which can range from mild to life-threatening. Amicar can help to prevent or reduce the severity of these bleeds. It is important to keep Amicar on hand in case of a bleed, as it needs to be given as soon as possible after a bleed starts.


Cryoprecipitate is a blood product that is used to treat Haemophilia. It is made from the blood of healthy donors and is frozen at -30 degrees Celsius. When it is thawed, the precipitate is separated from the plasma and is then ready to be used. Cryoprecipitate is usually given intravenously (into a vein) and can be used to treat bleeds that are happening or to prevent bleeds from happening.


Preventing Hemophilia

People with Haemophilia can bleed for a long time after an injury, and their joints may be damaged from repeated bleeds. People with hemophilia and their families can learn to manage the condition and live full, active lives.

The best way to prevent bleeds is to avoid injury. People with hemophilia should wear protective gear when playing sports or engaging in other activities that could lead to an injury.

People with Haemophilia should also be careful when handling sharp objects and should avoid contact sports. If a bleed does occur, it is important to seek medical treatment immediately.

With proper treatment and precautions, people with Haemophilia can lead long, healthy lives.


Living with Hemophilia

A bleed can happen anywhere in your body, but most often happens in your joints or muscles.

Living with hemophilia can be a challenge, but there are ways to manage the condition and live a full, active life. Here are some tips:

  •  Stay informed about your condition. The more you know about Haemophilia, the better you’ll be able to manage it.
  •  Work with your healthcare team. You’ll need to see a hemophilia treatment center (HTC) regularly. The staff there can help you manage your bleeds and keep your joints healthy.
  •  Stay active. Exercise can help prevent bleeds and keep your joints healthy. But be sure to talk to your HTC staff before starting any new exercise program.
  •  Be careful with activities that could cause a bleed.


Bleeding after vaccinations

If you have hemophilia and you get a vaccination, you may need to take special precautions. Your doctor may recommend that you take a blood-clotting medication before you get the vaccination. You may also need to avoid strenuous activity for a few days after the vaccination.


When to See Your Doctor

If you have Haemophilia, it’s important to see your doctor regularly, even if you’re feeling healthy. That’s because hemophilia can cause serious health problems if it’s not treated.

Your doctor will likely want to see you every three to six months. At these visits, your doctor will check your blood clotting factor levels and ask how you’re doing. You may also get blood tests and physical exams.

If you have a bleed, you should see your doctor right away. Tell your doctor if you have any signs of a bleed, such as:

  •  Joint pain
  •  Muscle aches
  •  Tingling or numbness in your joints
  •  Swelling in your joints
  •  Warmth in your joints
  •  Redness or bruising
  •  Unexpected bleeding, such as from your gums or nose

Hemophilia can cause serious health problems, so it’s important to see your doctor regularly.



Hemophilia is a rare, inherited blood disorder in which the blood does not clot properly. People with Haemophilia can bleed for a long time after an injury, and they are at risk for serious internal bleeding. There is no cure for hemophilia, but treatment can help people manage the disorder and prevent serious problems.

Originally posted 2022-12-09 02:42:33.

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