Hemophilia-Types, Symptoms, Causes, Diagnosis & Treatment

Hemophilia is a blood illness caused by a genetic abnormality. It occurs when a gene mutates, which is usually inherited and passed from parent to child. Hemophilia is a blood disorder that usually affects boys. With mild hemophilia A, girls and women can be hemophilia carriers. They may experience minor bleeding symptoms and potentially pass the gene on to their offspring.

What is Hemophilia?

Hemophilia is a clotting disorder that causes the blood to clot slowly. People with this syndrome have chronic bleeding after an injury, surgery, or tooth extraction. In severe cases of hemophilia, continuous bleeding can occur after minor trauma or even in the absence of injury (spontaneous bleeding). Internal bleeding into the joints, muscles, brain or other internal organs can be fatal. Hemophilia A and B may not always induce spontaneous bleeding, and symptoms may not develop until abnormal bleeding occurs after surgery or a significant accident.

Clotting factors are proteins found in the blood that can assist stop bleeding. Factor VIII (8) or factor IX (9) levels are low in people with hemophilia. The amount of factors in a person’s blood determines the severity of hemophilia. The lower the factor level, the more probable bleeding may occur, possibly causing major health problems.

In rare cases, people can develop hemophilia later in life. The majority of cases are middle-aged, elderly, or young women who have recently given birth or are nearing the end of pregnancy. With the best treatment, hemophilia can usually be resolved.

Types of Hemophilia

The three types of hemophilia include hemophilia A, B, and C.

Hemophilia A:

The most frequent type of hemophilia is type A. Factor VIII deficiency causes this type of hemophilia, also known as “classic hemophilia.”

Hemophilia B:

This type of hemophilia, commonly known as Christmas disease, is caused by a lack of or severe deficiency in clotting factor IX.

Hemophilia C:

Hemophilia C, commonly known as “factor XI deficiency,” is rare hemophilia initially discovered in 1953 in people who experienced severe bleeding after teeth extractions.

Hemophilia is a blood disorder that is passed down from one generation to the next. It could reduce symptoms and prevent future health problems.

Congenital Hemophilia

The majority of hemophilia patients are congenital with the disease. Genetics refers to a trait that you inherit from one or both of your parents when you are born. People with a family history of hemophilia account for almost two-thirds of all cases of type A and B hemophilia.

Acquired Hemophilia

Unlike congenital hemophilia, acquired hemophilia can develop without a personal or family history of the disease. On the other hand, Acquired hemophilia is a rare autoimmune disorder.

When your immune system attacks healthy cells, you have an autoimmune disease. In acquired hemophilia, the immune system produces antibodies that attack clotting factors, the most common of which is factor VIII (acquired hemophilia A).

Symptoms

Hemophilia symptoms include:

Joint bleeding that leads to swelling, discomfort, and tightness in the joints is common in the knees, elbows, and ankles.
Bruising or bleeding into the skin, muscle, or soft tissue, results in a blood clot (called a hematoma).
Mouth and gum bleeding and difficult-to-stop bleeding after a tooth is lost.
Bleeding is caused by surgeries performed, especially on male babies, to remove the foreskin covering the head of the penis).
After a difficult delivery, bleeding in the head of an infant.
Blood can be found in the stool and urine.
Frequent nasal bleeding is difficult to stop.

What Causes Hemophilia?

The genes that control and regulate the generation of clotting factors are the primary cause of all kinds of hemophilia. Clotting factors aid in the formation of blood clots that seal wounds.

About two-thirds of hemophilia A and B mutations come from a parent. Even in those with no family history of the disease, the remaining modifications can occur spontaneously.

How is hemophilia diagnosed?

Hemophilia can be detected with a blood test. A small blood sample will be drawn from your vein, and the amount of clotting factor present will be measured. After that, the piece is graded to determine the severity of the factor deficiency and the condition.

Blood tests to detect hemophilia, include:

Complete Blood Count (CBC)
Prothrombin Time (PT)
(PTT) Partial thromboplastin time
factor VIII activity test
factor IX activity test

If haemophilia runs in the family, prenatal testing with amniocentesis or chorionic villus sample can be done. When the baby is born, a sample of blood from the umbilical cord is usually tested.

Only a few babies are diagnosed with hemophilia in the first six months of life. This is because they are unlikely to sustain an injury that would lead to bleeding. After circumcision, there may be bleeding, leading to a diagnosis.

A doctor may consider haemophilia if a child bruises easily and bleeds excessively when injured as they get older and more active.

What is the hemophilia treatment?

Hemophilia treatment varies according to the type of hemophilia treatment you go for. The primary goal is to replenish clotting factors so that a person can form clots and stop bleeding.

As per the type of hemophilia you have, your doctor may prescribe the following:

Concentrated FVIII or FIX product

Types A and B are treated using concentrated FVIII or FIX products, which are also known as clotting factors. Synthetic or human plasma-based medications are also possible, and doctors frequently prescribe them as part of prevention, which is a long-term therapy program.

Aminocaproic acid

Aminocaproic acid is a drug that prevents blood clots from breaking down. Before dental or other surgery, doctors may prescribe this drug.

External Therapy

If hemophilia has affected your joints, you may need to undergo rehabilitation at a physical therapy centre.

Management of Pain

If you are experiencing pain for the rest of your disease, your healthcare provider may suggest pain medication to help you manage it.

Non-factor replacement therapies

These drugs are a newer type of therapy that replicates clotting factors using synthetic proteins. A doctor injects the medication into the skin.

Frequently Asked Questions

1. What are the complications of hemophilia?

Hemophilia complications include repetitive bleeding causes, joint damage, Extensive internal bleeding, Fractures, and Bleeding in the brain, which causes neurological symptoms.

2. Is Hemophilia a life-threatening disease?

Hemophilia is a threatening life disorder caused by an inherited genetic mutation. This disease, if left untreated, can be life-threatening, and thus it must be treated with extreme caution. Most patients can live everyday lives with the proper treatment, but the illness is incurable.

Ujala Cygnus Healthcare Group has 16 hospitals. Kanpur, Rewari, Kashipur, Varanasi, Sonepat, Panipat, Kurukshetra, Nangloi in Delhi, Rama Vihar in Delhi, Kaithal, Bahadurgarh, Karnal, Moradabad, Haldwani, and Agra.

You can book an appointment at your nearest Ujala Cygnus Hospital for any health issue treatment. For any query, you can give a missed call on 88569-88569 and get a free consultation over the phone.