More than 200,<> people around the world suffer from some form of hemophilia, a disease also known as hemophilia that affects blood clots. It can have serious complications.

What causes hemophilia? What are its symptoms? And what is the treatment?

What is hemophilia?

Hemophilia is a genetic bleeding disorder in which blood doesn't clot properly, which can lead to spontaneous bleeding or bleeding after injury or surgery. The blood contains many proteins called clotting factors that can help stop bleeding, and people with hemophilia have low levels of factor VIII (8)] or factor IX (9).

The severity of a person's hemophilia is determined by measuring the amount of factor in the blood; the lower the amount of the factor, the more likely it is to bleed, which can lead to serious health problems, according to the US Center for Disease Control and Prevention.

In rare cases, a person can develop hemophilia later in life, even though they were born healthy. The majority of cases involve people in middle age or the elderly, or young women who have recently given birth or are in the late stages of pregnancy. This condition is often resolved with appropriate treatment.

How is hemophilia inherited? And why is it rare among women?

Hemophilia is caused by a mutation or change in a gene that instructs the body to make clotting factor proteins needed to form a blood clot. This change — or mutation — can prevent the clotting protein from functioning properly or losing it altogether.

These genes are found on the X chromosome. Males have one X chromosome and one Y chromosome XY, and females have two XX chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers, while females inherit one X chromosome from each of the father and mother.

The X chromosome contains many genes that are not found in the Y chromosome, which means that males have only one copy of most of the genes on the X chromosome, while females have two. Thus, males can develop a disease such as hemophilia if they inherit an X chromosome with a mutation in the factor VIII or factor IX gene.

Females can also develop hemophilia, but this is very rare. In such cases, both X chromosomes are affected, or one is affected, and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.

A female with the affected X chromosome is a "carrier" of hemophilia. Sometimes, a pregnant female can show symptoms of hemophilia. In addition, she can transfer the X chromosome infected with the clotting factor gene mutation to her children.

Do women get hemophilia?

Although hemophilia is rare in women compared to men, some women can also develop the disease. The U.S. Centers for Disease Control and Prevention has called for raising awareness about this fact to help women with hemophilia receive the care and support they need to live healthy lives.

Symptoms of hemophilia

  • Bleeding in the joints, this can cause swelling, pain or tightness in the joints. Most often affects the knees, elbows and ankles.
  • Bleeding in the skin (bruising) or muscles and soft tissues, causing blood to build up in the area.
  • Bleeding of the mouth, gums and bleeding that is difficult to stop after tooth loss.
  • Bleeding after circumcision.
  • Bleeding after injections, such as vaccinations.
  • Bleeding in the baby's head after a difficult birth.
  • Blood in urine or feces.
  • Frequent and difficult to stop nasal bleeding.

Complications of hemophilia

Hemophilia can lead to:

  • Intra-joint hemorrhages can lead to chronic joint diseases and pain.
  • Bleeding in the head and sometimes in the brain can cause long-term problems, such as seizures and paralysis.
  • Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.

Hemophilia treatment

The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood coagulates properly, by injecting commercially prepared agent concentrates intravenously. People with hemophilia can learn how to make these injections themselves so they can stop bleeding episodes, and by making injections on a regular basis (called preventive treatment), they can even prevent most bleeding episodes.

Good medical care can help prevent some serious problems.

Types of hemophilia

  • Hemophilia type A: It is the most common type of hemophilia, caused by a deficiency in blood clotting factor VIII, and usually affects males only.
  • Hemophilia type B: Also called "Christmas disease", it is caused by a deficiency in clotting factor IX, and usually affects males only.
  • Hemophilia type C: Symptoms are less severe than types A and B, are caused by a deficiency in clotting factor 11 and can affect males and females.

What is the highest severity of hemophilia?

The severity of disease in hemophilia is classified according to the plasma level of FVIII or FIX. The acute form is defined as a factor level below 1%, the moderate form with a factor level of 1-5%, and the moderate form with a factor level of 5%-40%.