Hemophilia: Causes, types and symptoms

Hemophilia is a rare inherited disorder that prevents blood from clotting. This disorder causes continuous bleeding for a prolonged period after the occurrence of an injury or surgery. This is a genetic disorder which means it cannot be transmitted. Blood contains various proteins known as clotting factors that are responsible for stopping bleeding.

When any kind of injury is endured, it is the responsibility of these clotting factors to act and stop the bleeding.

Hemophilia occurs due to the deficiency of these clotting factors in the blood which leads to uncontrollable bleeding, which can be life-threatening. The amount of clotting factor in a person’s blood determines the severity of their Hemophilia. The lower the level of the clotting factor, the more probable bleeding will occur, posing a major health risk.

Cause of Hemophilia

Hemophilia is caused by a mutation or change in one of the genes that give instructions on how to make the clotting factor proteins that help in the clotting of blood. This alteration or mutation can cause the clotting protein to stop operating or go missing completely. The X chromosome contains these genes. Two X chromosomes are present in females while males have one X and one Y chromosome. The X chromosome is passed down from mothers to sons, and the Y chromosome is passed down from fathers to sons. Each parent passes one X chromosome to the female. The X chromosomes include genes that are absent on the Y chromosome. This means that men have a single copy of most genes on the X chromosome while women have two copies. Thus, men may have diseases such as Hemophilia when inheriting X chromosomes that have mutations in factor VIII or factor IX genes. Women also have Hemophilia, but it is much less likely. In such cases, either both X chromosomes are infected or one of the X chromosomes is infected while the other X chromosome is non-infected or missing. Women with even one infected X chromosome can be a carrier of Hemophilia. Chances of having Hemophilia increase if it is running in family.

Types of Hemophilia

There are many factors in the blood that are involved in the formation of blood clots to stop bleeding. People with Hemophilia lack or have only a few levels of one of the factors needed for blood to clot. Two common factors that affect blood clotting are factor VIII and factor IX.

Hemophilia is classified according to its severity and can be mild, moderate, or severe, depending on the level of clotting factors in the blood. There are three main types of Hemophilia:

Hemophilia A: It is known as classic hemophilia and is caused by a deficiency of blood coagulation factor VIII. About 85% of hemophiliacs have type A Hemophilia.
Hemophilia B: It is known as Christmas disease and is caused by a deficiency of Factor IX.
Hemophilia C: It refers to a deficiency of the coagulation factor XI.

More commonly Hemophilia A occurs which is 1 in 5000 births while Hemophilia B occurs in about 1 in 20,000 births. [i]

Signs and Symptoms of Hemophilia

Patients suffering from Hemophilia will experience the following clinical features:

Joint bleeding – This can lead to swelling, tightness, or ache inside the joints. It regularly influences the knees, elbows, and ankles.
Skin bleeding – Collection of blood within an area leading to hematoma. It can occur in muscle or soft tissue.
Gum bleeding – Uncontrolled bleeding from the gums often after removing a tooth.
Bleeding followed by circumcision done in newborn male babies
Uncontrolled bleeding from the nose
Blood in urine or stool
Get bruised easily followed by excessive bleeding.
Muscle atrophy by bleeding
Uncontrolled bleeding in organs such as the brain can lead to paralysis and in severe cases lead to death

Hemophilia requires lifelong medical treatment. One of the main treatment option for Hemophilia is Prophylaxis treatment which is commonly referred to as a precautionary measure in Hemophilia of regularly infusing blood clotting factor focused to avoid bleeding. The main goal of prophylactic treatment is to stop bleeding symptoms and organs damage particularly in joints. Hemophilic arthropathy that results from recurrent or target joint bleeding can be prevented by this method. There are multiple treatment option Anti Hemophilic Factors can be given to patients as on demand & prophylaxis and also now newer treatment are also available which is long acting monoclonal antibodies given via sub cut route to patients to help them lead a normal life.

Along with above treatment option patients should also made aware about PRICE therapy to be taken at the first step before the reach the hospitals to get the treatment and along with above all they should avoid taking IM injection & NSAIDS.

We need to foster an environment that is patient centric, knowledge-sharing and promotes collaboration amongst HCP’s, patients, Care centers, and relevant authorities to improve treatment and comprehensive care for all the Hemophiliac patients.

[i] https://www.nhp.gov.in/haemophilia_pg

The author is the director professor of department of medicine at Maulana Azad Medical College

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