WHAT IS HAEMOPHILIA?
Haemophilia is a rare inherited genetic disorder that weakens the body’s ability to clot blood. This means that a person with haemophilia bleeds for a longer time.
There are two main types of Haemophilia:
- Haemophilia A
- Haemophilia B
Haemophilia A is the most common type and it occurs due to not enough Clotting Factor VIII (Clotting Factor is a protein in the blood that controls the bleeding); Haemophilia B is less common and it occurs due to not enough Clotting Factor IX. While the two types of Haemophils are different, the result is the same, i.e. a person with Haemophilia A or Haemophilia B bleeds for a longer time than normal.
WHAT CAUSES HAEMOPHILIA?
Haemophilia is a genetic disorder, this means that people are born with the condition. It is passed on through a parent’s genes. Genes determine the way the body’s cells will develop as a baby grows into an adult, such as hair and eye colour.
The genetic alteration causing haemophilia is passed down from parent to child through generations. Men with Haemophilia will pass the altered gene on to their daughters but not their sons. Women who carry the altered gene can pass it on to their sons and daughters. Sons with the gene will have haemophilia. Some women and girls who carry the gene may also experience bleeding problems.
In some cases, haemophilia occurs even when there is no family history of it. This is known as Sporadic Haemophilia.
WHAT ARE THE SYMPTOMS OF HAEMOPHILIA?
The signs and symptoms for Haemophila A and B are the same:
- Big bruises
- Bleeding into muscles and joints
- Spontaneous bleeding (sudden bleeding inside the body for no apparent reason)
- Prolonged bleeding after getting a cut, removing a tooth, or having a surgery
- Bleeding for a long time after an accident, especially after an injury to the head
Bleeding into muscles and joints causes an ache, swelling, pain & stiffness and occurs in difficulty using a joint or muscle.
People with Haemophilia can bleed inside or outside the body. In Haemophilia, most bleeding occurs internally, into the muscles or joints. The most common muscle bleeds occur in the upper arm and forearm muscles, the iliopsoas muscle (the front of the groin area), the thigh, and the calf. The knee, ankle and elbow are the joints that are most affected, and if the bleeding into the same joint occurs often, the joint can get damaged and cause pain.
Repeated bleeding can cause other health problems, such as arthritis. This can make it difficult to walk or perform simple tasks, however, the joints of the hands are not usually affected.
HOW IS HAEMOPHILIA DIAGNOSED?
The condition is diagnosed by taking a blood sample to measure the level of factor activity in the blood. Haemophilia A is diagnosed by testing the level of Factor VIII activity and Haemophilia B is diagnosed by measuring the level of factor IX activity.
In cases where the mother is a known carrier of Haemophilia, testing can be done before a baby is born.
HOW IS HAEMOPHILIA TREATED?
The missing clotting factor in the blood is injected into the bloodstream using a needle and the bleeding stops when enough clotting factor reaches the spot that is bleeding.
The treatment for the bleeding should be done as quickly as possible. Immediate treatment will help reduce pain and damage to the joints, muscles, and organs. Also, if the treatment begins immediately, less blood product is needed to stop the bleeding.
With an adequate quantity of treatment products and proper care, people suffering from Haemophilia can live perfectly healthy lives.
The following Treatment Products are generally used for treatment:
- Factor Concentrates are the treatment of choice for Haemophilia and are made from human blood or manufactured using genetically engineered cells that carry a human factor gene.
- Cryoprecipitate is derived from the blood and contains a moderately high concentration of clotting factor VIII (but not IX). This product is effective for joint and muscle bleeds but is less safe from viral contamination than concentrates and is harder to store and administer.
- In Fresh Frozen Plasma, the red cells are removed, leaving the blood proteins including clotting factors VIII and IX. This is less effective than cryoprecipitate. This treatment requires large volumes of plasma to be transfused, which can lead to a complication called circulatory overload.
IS HAEMOPHILIA LIFELONG?
A person with haemophilia will have it for life. The level of factor VIII or factor IX in the blood usually stays the same throughout the person’s life.
HOW SERIOUS IS HAEMPHILIA?
The severity of haemophilia depends on the amount of factor VIII or factor IX in the blood. There are three levels of severity: mild, moderate and severe.
People with mild haemophilia usually bleed only as a result of surgery or major injury.
People with moderate haemophilia bleed less often, usually after an injury. It is also possible that a person with mild haemophilia may bleed spontaneously.
People with severe haemophilia usually bleed frequently into their muscles or joints. They may bleed often, one or two times a week, and bleeding is spontaneous.
SHOULD PEOPLE WITH HAEMOPHILIC EXERCISE AND PLAY SPORTS?
While people avoid exercise because they think it may cause bleeds, but exercise can actually help prevent them. Strong muscles help protect someone who has haemophilia from spontaneous bleeding and joint damage.
Playing sports also helps. It helps build muscle, however some sports are riskier and the benefits must be weighed against the risks. The severity of a person’s haemophilia must be considered before choosing a sport. Sports like swimming, badminton, cycling, and walking are safe for most people with haemophilia.