Haemophilia is a genetic disorder which affects the blood in a person's body. The blood is missing important proteins which is necessary for the blood to clot. When a person's body in unable to clot blood correctly, the body has trouble stopping itself from bleeding.
There are two types of haemophilia, Haemophilia Type A and Haemophilia Type B. In Australia, there are more than 2,700 people with this condition. Haemophilia 'Type A' is more comman than Haemophilia 'Type B.' Haemophilia Type A (classical haemophilia) is caused when there is not enough clotting factor VIII in the blood which occurs one in every 20,000 births. While type B (Christmas Disease) is caused when there is not enough clotting factor IX in the blood and occurs one in every 60,000 births. Out of all people who have haemophilia, 85% have type A and 15% have type B.
Haemophilia affects all different kinds of racial and ethnic groups equally, it is not comman in any specific community but are only affected in men but is carried by a women of the same family.
The severity of haemophilia is described as either mild, moderate, or severe. Haemophiliacs cannot stop the bleeding. It is a major disorder which if not treated, can result in death. Symptoms of haemophilia can be: excessive bleeding, joint pains, swelling due to internal bleeding.
Severe haemophilia is diagnosed in the first year of the persons life, they experience heavy bruising and bleeding of the gums as baby teeth starts to grow. They can also suffer severe bruising as they learn to walk.
Haemophiliacs experience episodes of spontaneous bleeding, which means they bleed even though they don't experience any injuries. Spontaneous bleeding occurs mostly in the joints, but also occur in muscles and under the person's skin. They also experience frequent nosebleeds, blood in urine (from bleeding in kidneys or bladder) and blood in feces (bleeding in intestines or stomach).
Moderate haemophiliacs do not have spontaneous bleeding episodes but they do bleed after suffering from an injury, including minor ones. Symptoms of moderate haemophilia are still serious, they are like symptoms of severe haemophilia however occur less frequently. Patients are usally diagnosed before the age of 5 and 6.
Mild haemophiliacs are not diagnosed until later in life when they are adolescents or even adults. They do not experience spontaneous bleeding but can experience bleeding after surgeries, dental procedures and major injuries.
HOW IT IS INHERITRD
Haemophilia is inherited through the mother and is passed down to the son. The mutation that creates this genetic disorder is located on the X-chromosome where the recessive blood clotting factor VIII and IX protein genes are, this means that it is a X-linked, recessive genetic disorder.
Woman are only carriers of this disease and only men who experience symptoms of haemophilia because females have two X chromosomes so if one chromosome has a haemophiliac mutation, the other normal X chromosome is not affected and can supply the factor VIII and IX proteins.
This means that women are carries of haemophilia and are not affected but can be passed down to their children. Men only have one X chromosome, so if it contains a haemophiliac mutation, their ability to generate working clotting factors are gone.
To identify haemophilia, it can be diagnosed before birth, in childhood or later. There are different test that are involved, depending on when the diagnosis is preformed.
There are 2 prenatal haemophilia tests. In chroionic villus sampling (CVS), a sample is taken from the placenta which has tissue that lines the uterus during pregnacy and the factor VIII and IX genes are examined for mutations. Another test performed is taking a small sample of the amniotic fluid from the uterus and is evaluated for mutations.
Test the are preformed for children and adults are taken from a physician, they ask if the patient has any family background of bleeding problems. Although clinical symptoms cannot determine if they have haemophilia it is important for medical evaluations. A series of questions are asked whether the patient has experienced excessive bleeding, deep-muscle bruises, blood in urine of feces, prolonged or heavy periods for young girls.
The partial thromboplastin time (PPP) and prothrombin time (PT) test can be done to diagnose a bleeding disorder. Blood is drawn to evaluate how long it takes for the the blood to clot but it does not tell if the patient has haemophilia or indicate whether it is type A or B.
If the patient is suspected to have a bleeding disorder they can undergo a coagulation factor test. This test determines the activity of factor VIII and IX in the patients blood and determine if they suffer from either haemophilia type A or B.
Due to today's advanced treatments, most haemophiliacs can live full and productive lives. Haemophilia is an incurable genetic disorder which is still undergoing research, those diagnosed are still able to live a 'normal life.' Living with a genetic or rare disease can impact the daily lives of the patients and families. In some cases the mortality rate depends on whether any other underlying diseases or conditions are present. Their quality of life will be normal but they always have to be cautious of what they are doing to avoid excessive bleeding. Without adequate treatment, many people with hemophilia die before they reach adulthood. However, with proper treatment, life expectancy for people with hemophilia is about 10 years less than that of males without hemophilia, and children can look forward to a normal life expectancy.
Treatments for haemophilia depends on the type and often depends on the severity of the disorder in each person. The main treatment for haemophilia is called replacement therapy. It increases the concentration of the clotting factor of VIII (for haemophilia A) or clotting factor IX (for haemophilia B) which are slowly dropped or injected into a vein. This helps reduce the clotting factor that is low or missing.
Another treatment is called episodic therapy. People with mild haemophilia can be treated with desmopressin (DDAVP). Desmopressin raises the levels of factor VIII in the blood and may be injected in a vein or through a nasal spray. Drugs known as antifibrinolytics, slowly increase the clotting factors in the blood and can also be used to treat those with a mild form of the disorder.
Some people with severe haemophilia may receive periodic factor VIII infusions to prevent episodes of bleeding and associated complications such as joint damage. This is referred to as prophylactic therapy.