What To Know About Hemophilia, a Rare Blood Disorder

Haemophilia is a rare medical condition where blood does not bang properly. Various treatment options are available to help prevent and control bleeding episodes.

After a cut or injury, the body normally forms clots to stop bleeding. With hemophilia, it takes more time for bleeding to stop because your blood does not have enough of certain blood coagulation proteins, called coagulation factors. There are different types of hemophilia and each involves different coagulation factors.

Hemophilia has

Also called classic hemophilia, this is the most common type. It affects about 8 out of 10 people with hemophilia. People with hemophilia A do not have enough coagulation factor VIII (factor 8). Hemophilia A can be light, moderate or severe, depending on the scope of factor VIII.

Hemophilia B

This type of hemophilia (also known as Christmas disease) occurs when people do not have enough IX coagulation factor (factor 9). It is less common than type A, although it causes similar symptoms. For each 100,000 men, around 4 have hemophilia B.

Hemophilia C

This rare type occurs when people do not have enough coagulation factor X (factor 11). Unlike types A and B, which are linked to X chromosome, hemophilia is caused by gene changes in a non -sex chromosome.

People develop hemophilia C if they inherit a modified gene for both parents. Hemophilia C also occurs in men and women. About 1 in 100,000 people have this type, which generally causes more mild bleeding problems than other types of hemophilia.

People with hemophilia may feel different symptoms depending on the severity of their condition. Light cases of hemophilia can only show symptoms after injuries or surgery. But people with severe hemophilia may experience bleeding even without obvious injury.

Common bleeding symptoms

The main signs of hemophilia involve bleeding difficult to stop, such as:

• Bleeding lasts longer than usual after cuts or injuries
• Great deep bruises that appear without clear cause
• The persistent nose bleeds
• Blood in urine or stool
• Bleeding after dental work

Joint and muscular symptoms

Some people with hemophilia have bleeding in their joints and muscles, which can cause additional symptoms such as:

• Hot, swollen or painful joints, especially in your knees, ankles and your elbows
• Limited movement in affected joints, generally after physical activity
• Morning stiffness in your hips and shoulders
• Muscle weakness in areas that have experienced bleeding

Symptoms in infants and young children

Sometimes the first sign of hemophilia appears when a baby has unusual bleeding after circumcision (surgical procedure to eliminate the foreskin from the penis, often carried out in the first days of life). In other cases, parents are starting to notice signs as their baby grows and becomes more active. These panels may include:

• Easy bruises
• Longer bleeding of small mouth injuries, like banging in toys or during teeth
• Unusual swelling or bruising after vaccinations or other injections
• Large sweet bumps (“goose eggs”) after minor bumps in the head
• Magasin or registry without clear reason

Hemophilia is Usually inheritedThis means that it is transmitted by the families of the genes.

Women inherit an X chromosome of each parent, while males inherit a chromosome X from their mother and their father’s y chromosome. The genes responsible for making coagulation factors are located on the X chromosome.

Men who inherit an X chromosome with the hemophilia gene will probably develop the condition. For women, hemophilia generally only occurs if the two X chromosomes carry the gene or if one has the gene and the other X chromosome is lacking or does not work.

Women with the gene on a single X chromosome are called bearers and may have light or without symptoms. They can transmit the gene to their children.

In rare cases, people can develop hemophilia that is not inherited. This is called Acquired hemophiliaAnd this happens when your body’s immune system wrongly attacks and damages the coagulation factors. This can happen during or after pregnancy, with certain autoimmune diseases or with age.

Risk factors

The main risk factor for hereditary hemophilia is to have family history, especially on the mother’s side. Being men is also a major risk factor for hemophilia A and B.

When there are family history of hemophilia, health care providers often test newborns for the condition. In other cases, you can be diagnosed with hemophilia after unusual bleeding.

Health care providers use several blood tests to confirm hemophilia and determine its type and severity. These tests include:

• Complete blood number (CBC): Checks the overall blood health and can show whether blood loss has occurred
• Activated partial thromboplastin time (Aptt): Measure the time it takes for blood to get stupid and can identify coagulation problems
• Prothrombin time (PT): Test to what extent the specific coagulation factors work
• Factor VIII and IX activity tests: Measure the quantities of these coagulation factors to diagnose the type and severity of hemophilia

For families with history of hemophilia, genetic tests can provide important information.

Treatments can help manage hemophilia and prevent complications. The treatment options depend on the type and severity of hemophilia.

Replacement of the coagulation factor

The main treatment of hemophilia is to replace the missing coagulation factor. Doctors can choose between two different types of replacement factors. One is made from human blood plasma which has been detected and treated. The other is created in a laboratory without using human blood products.

DDAVP (Desmopressin)

DDAVP is a synthetic hormone that triggers the body to release more from its own VIII factor in the bloodstream. This treatment can help people with light to moderate hemophilia, but it is not effective for hemophilia B or C or severe hemophilia A.

Other drugs

Certain drugs, such as Tranexamic acid And Epsilon Aminocaproic acidHelp prevent blood clots from breaking down too quickly. These drugs can be particularly useful for treating mouth bleeding and during dental procedures.

Gene therapy

Gene therapy adds healthy genes to the body, allowing it to make its own coagulation factor. Scientists are still studying this treatment, but some people who have received gene therapy have been able to make their own coagulation factor.

Surgery and physiotherapy

When bleeding occurs in a joint, treatment may include surgery and immobilization of the joint until it heals. After healing, physiotherapy and exercise can help strengthen the muscles around the joint and improve movement.

Although the condition itself cannot be avoided, people with hemophilia can take measures to prevent bleeding episodes and their complications. Working in close collaboration with your health care team to develop and follow a treatment plan can help reduce the risk of bleeding problems.

Many people with severe hemophilia receive preventive treatment, called prophylaxis. This treatment consists in receiving coagulation factor therapy several times a week to prevent bleeding before its start.

If hemophilia works in your family, genetic tests can provide information on the probability of passing the condition to your children. This can help you make informed decisions on future pregnancies and allow early diagnosis and treatment if necessary.

Without treatment, hemophilia can lead to serious health problems such as:

• Joint damage: Repeated bleeding in the joints can cause damage over time, causing pain, stiffness and a displacement problem. This is one of the most common complications of hemophilia.
• Muscle pain: Bleeding in the muscles can cause swelling and pressure. If it is not treated quickly, this pressure can damage the nerves and blood vessels nearby.
• Brain bleeding: Any head injury can be dangerous because it can cause bleeding in the brain, which requires immediate medical care.
• Internal bleeding: Bleeding in your internal organs can be fatal.
• Inhibitors: Some people develop antibodies (called inhibitors) which fight against the treatments of coagulation factors, making them less effective.
• Infection: People who receive blood products as part of their treatment have a low risk of blood transmission infections, although this is rare with modern treatments.

People with hemophilia can expect to live as long as those without condition.

Living with hemophilia can involve lifestyle adjustments. Certain activities, like many sports, have a higher risk of injury, so it is important to know what precautions to take.

To help protect your health while remaining active, you can:

• Safety exercise by working with your health care team to develop an appropriate fitness routine.
• Practice good dental hygiene to reduce the risk of bleeding in dental procedures.
• Maintain a safe family environment by removing travel risks.
• Transporting a medical identification that indicates that you have hemophilia.