Haemophilia
What is Haemophilia?
Hemophilia is a group of inherited blood disorders in which the blood does not clot properly.
Bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An affected individual may bleed spontaneously or for longer than a healthy person after injury or surgery.
The blood coagulation mechanism is a process which transforms the blood from a liquid into a solid, and involves several different clotting factors. The mechanism generates fibrin when it is activated, which together with the platelet plug, stops the bleeding.
When coagulation factors are missing or deficient the blood does not clot properly and bleeding continues.
Patients with Haemophilia A or B have a genetic defect which results in a deficiency in one of the blood clotting factors.
Queen Victoria was a carrier and passed the mutation to her son Leopold, and through several of her daughters to members of the royal families of Spain, Russia, and Germany.
Are there various types of Haemophilia?
There are two main types of haemophilia - Haemophilia A (due to factor VIII deficiency) and Haemophilia B (due to factor IX deficiency). They are clinically almost identical and are associated with spontaneous bleeding into joints and muscles and internal or external bleeding after injury or surgery.
After repeated bleeding episodes permanent damage may be caused to the joints and muscles that have been affected, particularly the ankles, knees and elbows.
People with haemophilia have a genetic mutation in the affected gene on the X chromosome, which results in reduced production of Factor VIII or IX and creates a bleeding tendency, because coagulation takes much longer than normal, thus making the clot weak and unstable
Approximately one third of patients with haemophilia have no family history of the disease, either because of new genetic mutations, or because previous affected generations either had daughters (who were carriers) or sons who died in early childhood from haemophilia or any other cause or who were not affected.
Acquired haemophilia
This is very rare. The patient develops the condition during his/her lifetime and it does not have a genetic or heritable cause. It occurs when the body forms antibodies that attack one or more blood clotting factors, (usually factor VIII), thus preventing the blood clotting mechanism from working properly.
Patients may be male or female and the pattern of bleeding is rather different from that of classical haemophilia, the joints being rarely affected.
The disorder is particularly associated with old age and occasionally complicates pregnancy.
What causes Haemophilia?
People with haemophilia are born with it. It is caused by a fault in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosome.
What is coagulation? How does our blood clot?
Coagulation is a complex process by which the blood forms clots to block and then heal a lesion/wound/cut and stop the bleeding. It is a crucial part of haemostasis - stopping blood loss from damaged blood vessels. In haemostasis a damaged blood vessel wall is plugged by a platelet and a fibrin-containing clot to stop the bleeding, so that the damage can be repaired.
Coagulation involves a cellular (platelet) and protein (coagulation factor) component.
When the lining of a blood vessel (endothelium) is damaged, platelets immediately form a plug at the site of the injury, while at the same time proteins in the blood plasma respond in a complex chemical reaction, rather like a waterfall, to form fibrin strands which reinforce the platelet plug.
Primary haemostasis - when the platelets gather at the site of an injury to plug (block) it.
Secondary haemostasis - proteins (coagulation factors) act in a series of chemical reactions to strengthen the plug and allow healing to begin.
What are the symptoms of haemophilia?
Haemophilia symptoms vary, depending on the degree of blood clotting factor (coagulation factor) deficiency and they also depend on the nature of any injury.
Three levels of haemophilia are recognized, according to the level of clotting factor amounts in the blood. These are often expressed as percentages of normal:
Above 5% - mild haemophilia
1% to 5% - moderate haemophilia
Less than 1% - severe haemophilia
Mild haemophilia
People with inherited mild haemophilia may not have any symptoms until an event occurs which wounds the skin or tissue, such as a dental procedure or surgery, and results in prolonged bleeding. In societies where male circumcision is carried out soon after birth, mild haemophilia will be detected earlier. Joint bleeding is uncommon.
Moderate haemophilia
Those with inherited moderate haemophilia will be noticeable early on. The child will bruise easily and may also experience internal bleeding symptoms, especially around the joints, and after a blow or a fall. Bleeding that occurs inside a joint is usually referred to as a joint bleed.
Symptoms of a joint bleed:
Tingling sensation in the joint
Pain in the joint
Irritation in the joint
If left untreated, the patient may eventually experience:
More severe pain in the joint
Joint stiffness
The affected area becomes swollen, tender and hot
Joint bleeds most commonly affect the:
Ankles
Knees
Elbows
...and may less commonly affect the shoulders, hips or other joints.
Any surgical intervention, circumcision, dental procedure or injury will result in prolonged bleeding in a person with haemophilia.
Severe haemophilia
Symptoms are similar to those found in moderate haemophilia, but occur more frequently and are usually more severe.
A child with severe haemophilia will often bleed for no apparent reason, often referred to as spontaneous bleeding. Most commonly, in early childhood from about 18 months of age, the nose or mouth start to bleed or apparently spontaneous bruises appear, particularly on the legs. Parents are sometimes suspected of causing non-accidental injury (deliberate harm) to their children.
What are the symptoms of haemophilia type bleeding?
Several large or deep bruises
Joint pain or swelling
Unexplained bleeding or bruising
Blood in feces (stools)
Blood in urine
Unexplained nosebleeds
Unexplained gum bleeding
Tightness in the joints
Intracranial haemorrhage (bleeding inside the skull)
About 1 in every 30 patients with haemophilia will have intracranial haemorrhage at least once during their lives. This should be treated as a medical emergency. Spontaneous intracranial haemorrhage is rare and in many cases bleeding inside the skull will be the result of a blow to the head.
How is haemophilia diagnosed?
Prenatal testing - if a pregnant woman has a history of haemophilia, a haemophilia gene test can be done during pregnancy. A sample of placenta is removed from the uterus and tested. This test is known as a CVS (chorionic villus sampling) test.
Blood test - if a doctor suspects a child may have haemophilia a blood test can determine whether the patient has haemophilia A or B, and how severe it is. Blood tests can be performed from the time of birth onwards.
What are the treatments for Haemophilia?
Up to a few decades ago a considerable proportion of patients with haemophilia died prematurely. Tragically, many deaths were the result of childhood injury or surgery. Over the last forty years treatment has advanced so much that the vast majority of patients today are expected to live long and active lives.
The main breakthrough in treatment occurred when coagulation factor deficiencies linked to haemophilia could be identified and then replaced, using products derived from human blood.
In the past patients used to receive whole blood or plasma infusions to control episodes of bleeding. Even though this helped, levels of clotting factors, especially factors VIII and IX, never reached the levels required for really effective blood coagulation, nor could these levels be sustained - in other words, serious bleeding was only partly treated.
Cryoprecipitate, made through the cold precipitation of frozen plasma from1965 onwards, was the first really effective treatment for haemophilia A. Freeze-dried concentrates made from human plasma containing the right levels of Factors VIII and IX became available in the late 1960s and early 1970s. Being able to keep the treatment at home and use it as required meant that patients could travel, leave the home, go to work, and enjoy a level of independence. However, a large number of patients subsequently became infected with blood-borne pathogens, such as hepatitis B, hepatitis C and HIV.
From the mid 1980s rigorous donor selection and viral inactivation procedures reduced the risk of blood-borne viral transmission to nearly zero. During the 1990s it became possible to prepare synthetic (recombinant) factors, using specially prepared mammalian cells and these recombinant concentrates are now widely used.
Haemophilia treatment will mainly depend on its severity and for patients with Haemophilia A or B involves clotting factor replacement therapy.
Desmopressin (DDAVP)(for mild haemophilia A)
This medication is a synthetic hormone which encourages the body to produce more of its own Factor VIII.
It is unsuitable for patients with haemophilia B and those with severe haemophilia A. In patients with milder forms of haemophilia A, factor VIII replacement therapy may be necessary, especially for severe bleeds, or after serious injury or major surgery.
RICE (Rest, Ice, Compression, Elevation)
RICE is a treatment many health care professionals recommend for joint bleeds. It also reduces swelling and tissue damage when used together with clotting factor concentrates.
Administering clotting factor concentrates
The medication is injected into a vein - generally in the back of the hand or at the crook of the elbow. Initial treatments are usually administered by a doctor or nurse at a hospital or clinic.
Source: Medical News Today
