What is Hemophilia and it's origin of disorder?

Hemophilia is a hereditary disorder that causes bleeding for a long time after injury or surgery and painful swelling of the joints either after injury or even without injury. Hemophilia is due to a deficiency of clotting factor, this results in increased bleeding. There are two types of Hemophilia A (clotting factor VIII deficiency), which is more common and occurs in about 1 in 5,000 births. Hemophilia B (factor IX deficiency) is less common and occurs in around 1 in about 20,000 births.

How is it hereditary?

The disease of Hemophilia is X linked and inherited from the mother, though the disease is present in males. A family history of maternal uncles or other male affected relatives on the mother’s side are often present. Though many cases are due to a new acquired mutation in the genes, and in these families, no family history is present.

In the X-linked variety of Hemophilia the inheritance is due to a defective gene on the X chromosome. All humans have X chromosomes, in females there are two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to Hemophilia. A male who inherits Hemophilia gene on his X chromosome will suffer from Hemophilia. If a female has the defective gene on one of her X chromosomes, she is a "Hemophilia carrier.” The carrier does not suffer from Hemophilia, but they can pass on the disease to their sons. Their daughters do not have the disease, but they may also be carriers. As said before, this can also occur as a new mutation in families without a history of Hemophilia.

What are Complications? Do’s & Don’ts

Patients of Hemophilia have

• External bleeding for a longer time than others after any injury, injections, operations or tooth extractions.

• Internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
• Joints damage, potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis
• Transfusion transmitted infection from blood transfusions that are given as treatment.
• Reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.
• Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness, brain damage, and death.

Are there different types of Hemophilia?

There are two main types of Hemophilia: Hemophilia A, which occurs due to not enough clotting factor VIII, and Hemophilia B, which occurs due to not enough clotting factor IX. They are typically inherited from one's parents through an X chromosome with a non-functional gene. Rarely a new mutation may occur during early development or Hemophilia may develop later in life due to antibodies forming against a clotting factor. Other types include Hemophilia C, which occurs due to not enough factor XI, and par Hemophilia, which occurs due to not enough factor V. Acquired Hemophilia is associated with cancers, autoimmune disorders, and pregnancy. Diagnosis is by testing the blood for its ability to clot and its levels of clotting factors

Severity of Hemophilia A or B is based on the amount of factor present in the blood.

• Severe Hemophilia patients have less than 1 % of factor VIII or IX
• Moderate Hemophilia have 1-5% of factor VIII or IX
• Mild have greater than 5 – 40% of factor VIII or IX

Some important places in body of bleeding

The Ilio-psoas (a muscle in the hip), is an important position of bleeding. If the patient has a bleed in this position, usually there is pain in the abdomen, because the muscle is deep inside no swelling is seen. The diagnosis is made by the doctor. Other positions of bleeding are the main joints e.g. knee, ankle, elbow joint are commonly affected. If injury any part of the body can be affected. Some patients may have bleeding in the brain, even after a very minor injury. Occasionally patients may have blood in the urine.

How Is Hemophilia Diagnosed?

To diagnose Hemophilia the doctor enquires patient about history of bleeding and any family history related to bleeding problems and ascertain the family history of Hemophilia. However, some families may have Hemophilia have a family history of the disease. The doctor will perform a physical exam to see the status of the joints. Then special blood tests to diagnose Hemophilia are performed, these blood tests may not be available everywhere. These include a baseline screening tests, which measure the coagulation time of blood called PT, APTT. Then if the APTT is prolonged , as is seen in Hemophilia a more specialized test is performed to see the deficiency of factor VIII (8) or IX(9) and the level of factor present. These test results will reveal if Hemophilia is present, what type of Hemophilia (A or B), and its severity. Once the doctors have all this information they will be able to advise you on the treatment and precautions.

Severe Hemophilia can result in serious bleeding problems even in babies. Children who have severe Hemophilia usually are diagnosed during the first year of life. People who have milder forms of Hemophilia may not be diagnosed until they are older or have a major injury or surgery. The bleeding problems of Hemophilia A and Hemophilia B are the same. Only the special blood tests can tell the type of Hemophilia, knowing which type is important because the treatments (injections) are different.

How Is Hemophilia Treated? Factor replacement

The main treatment for Hemophilia is called factor replacement therapy, the deficient factor is replaced by concentrates of clotting factor VIII (for Hemophilia A) or clotting factor IX (for Hemophilia B). These factors can be collected from blood plasma donors and purified (plasma derived) or they can be produced artificially in a laboratory (recombinant). They are given to the patient by an injection through a vein (intra venous) directly into the blood.

The purified plasma derived clotting factor concentrates are made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis, HIV etc. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small. The latest products are called recombinant clotting factors; they are not made from human blood, but produced in a laboratory and have no risk of hepatitis or HIV.

The clotting factors are supplied in vials which need reconstitution, after mixing they are given by intra venous injection over 15 minutes. For very small children a semi permanent venous access device may be needed to give the injections, in older children it is given directly into a vein. The dose of factor depends on the weight of the child, so as children get bigger they will need more factor and it also depends on the severity of bleeding. A mild injury may need only a small dose of factor (e.g. 20%) for 1 or 2 days, but a severe injury e.g. brain hemorrhage or major surgery may need 100% correction for 7 days.

First Aid for Hemophilia Treatment:

In addition to factor treatment, knowing the basics of first aid is important to managing bleeds. First aid can help slow bleeding for minor bleeds into joints or muscles.

• Resting – When a bleed happens, that area of the body should be rested. For instance, someone with an ankle or knee bleed should limit activities. It may be useful for people with hemophilia to keep a set of crutches at home. A temporary half-cast or splint can also be used to limit movement, which may help limit a child from overusing an injured limb.
• Ice package – Applying ice helps control swelling and reduce pain. Crushed ice in a plastic bag or a bag of frozen vegetables, wrapped in a towel, works well. Be careful not to apply the ice for too long as this can cause muscle weakness. Ten to 15 minutes, every two hours, is sufficient.
• Compression – Apply pressure on the bleed area to help "pinch off" the blood vessels and slow down the bleeding. Using an elastic bandage (tensor), wrap the injured part in a figure-eight pattern. Watch carefully for coolness, numbness, or a change in color in fingers or toes—if these occur, remove the bandage and re-wrap it less tightly. An alternative is a Tubigrip® sleeve. If the injury is very sore, compression may increase the pain; if so, rewrap the injury less tightly or remove the bandage altogether.
• Elevation position – Elevating the area of a bleed (to a position higher than the heart) helps decrease the pressure in the blood vessels and slow the bleeding. Try using cushions or pillows to make this more comfortable.

Medicine:

Factor VIII is used in Hemophilia A and factor IX in Hemophilia B. Desmopressin (DDAVP) may be used in those with mild Hemophilia A. Tranexamic acid or epsilon aminocaproic acid may be given along with clotting factors to prevent breakdown of clots.

Pain medicines, steroids, and physical therapy may be used to reduce pain and swelling in an affected joint.

Not to be Used Medicines:

Anticoagulants such as heparin and warfarin are contraindicated for people with Hemophilia as these can aggravate clotting difficulties. Also contraindicated are those drugs which have "blood thinning" side effects. For instance, medicines which contain aspirin, ibuprofen, or naproxen sodium should not be taken because they are well known to have the side effect of prolonged bleeding