World Hemophilia Day: Decoding Hemophilia Causes, Type, Symptoms, Treatment

Hemophilia is a result of a mutation in one of the genes that usually gives instructions to make clotting factor proteins. This change -- or mutation -- prevents the clotting protein from working properly.

Hemophilia is said to be an inherited bleeding disorder in which the blood does not clot properly, leading to spontaneous as well as excessive bleeding following any injury or surgery. According to the Centers for Disease Control and Prevention (CDC), human blood contains many proteins, called 'clotting factors' that can help to stop bleeding. People with hemophilia, however, have low levels of either 'factor VIII' or 'factor IX'. The severity of hemophilia is determined by the amount of factor in the blood; lower the amount of the factor, the more likely it is that bleeding will occur, leading to serious health problems.

Can A Person Develop Hemophilia Later In Life?

The CDC explains that in rare cases, a person may develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, or young women who have recently given birth or are in the later stages of pregnancy. This condition, however, resolves with treatment.

What Causes Hemophilia?

Dr Archana Swamy, paediatric hematologist at Lilavati Hospital Mumbai states that hemophiliais a result of a mutation in one of the genes that usually gives instructions to make clotting factor proteins. This change -- or mutation -- prevents the clotting protein from working properly. Sometimes, it is missing, too.

Understanding Genes

Dr Swamy explains that males have one X and one Y chromosome (XY), and females have two X chromosomes (XX). While males inherit the X chromosome from their mothers and Y chromosome from their fathers, females inherit one X chromosome from each parent. The X chromosome contains many genes that are not present in the Y chromosome. Males only have one copy of most of the genes on the X chromosome, whereas females have two copies. Males, therefore, can have hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Hemophilia in females is rarer.

The doctor, however, warns that a female with one affected X chromosome is a 'carrier' of hemophilia, meaning, she can pass the affected X chromosome with the 'clotting factor' gene mutation to her children.

Types Of Hemophilia

There are several different types of hemophilia; the following two are the most common:

• Hemophilia A (classic hemophilia): Caused by a lack or decrease of clotting factor VIII.
• Hemophilia B (Christmas disease): Caused by a lack or decrease of clotting factor IX.

Signs And Symptoms

According to the CDC, the common signs of hemophilia are:

1. Bleeding into the joints, which can cause swelling and pain, or tightness. It affects the knees, elbows, ankles.
2. Bleeding into the skin (bruising) or muscle and soft tissue, causing a build-up of blood in the area (hematoma).
3. Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
4. Bleeding after circumcision.
5. Bleeding after having shots, such as vaccinations.
6. Bleeding in the head of an infant after a difficult delivery.
7. Blood in the urine or stool.
8. Frequent and hard-to-stop nosebleeds.

Diagnosis And Treatment

The doctor says that in order to make a diagnosis, it is important to perform blood tests to know if the clotting is happening properly. If not, then doctors do clotting factor tests -- also called 'factor assays' -- to diagnose the cause of the bleeding disorder. These tests show the type of hemophilia and its severity.

The best way to treat hemophilia, according to the doctor, is to replace the missing blood clotting factor so that the blood can clot properly. It is done by administering through a vein commercially-prepared factor concentrates. Additionally, people with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes.

Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent serious problems, she states.