Frequently asked questions :- Hemophilia and website http://www.hfindia.org/

website http://www.hfindia.org/

Frequently asked questions :- Hemophilia

• What is the difference between hemophilia A and hemophilia B?
• There are two types of hemophilia: hemophilia A (sometimes called classical hemophilia) and hemophilia B (sometimes called Christmas disease). Both are caused by a low level or absence of one of the proteins in the blood (called factors) that control bleeding. Hemophilia A is caused by a deficiency of factor VIII, and hemophilia B is caused by a deficiency of factor IX.
• There is no difference between the two types of hemophilia, except that hemophilia B is about five times less common than hemophilia A.
• Are there other types of bleeding disorders?
• Yes, there are several other factor deficiencies that also cause abnormal bleeding. These include deficiencies in factors I, II, V, VII, X, XI, XIII and von Willebrand factor. The most severe forms of these deficiencies are even rare than hemophilia A and B.
• How does a person get hemophilia?
• Hemophilia is a genetic disorder, which is usually inherited. It cannot be caught or transmitted except through inheritance. The hemophilia gene is passed down from a parent to a child.
• About one third of new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of hemophilia in the family.
• Is hemophilia lifelong?
• A person born with hemophilia will have it for life. The level of factor VIII or IX in his blood usually stays the same throughout his life.
• Does hemophilia only affect men?
• The most severe forms of hemophilia affect almost only males. Females can be seriously affected only if the father has hemophilia and the mother is a carrier. This is extremely rare. However, many women who are carriers have symptoms of mild hemophilia.
• Are there any precautions a carrier should take if she becomes pregnant?
• It is important that a carrier’s hematologist is involved in the supervision of the pregnancy and that there is some liaison with the obstetrician before delivery. It is not necessary to perform prenatal diagnosis just for management of the pregnancy. This is only done if termination of a pregnancy is being considered.
• The factor VIII level (but not factor IX) tends to rise during pregnancy but it should be checked sometime in the last couple of months of pregnancy.
• A normal vaginal delivery is perfectly acceptable even if the fetus is known to be male and at risk of hemophilia. Epidural anesthesia does not usually present a problem and is generally permissible if the patient’s factor level is 40 percent or more. A cord blood sample after delivery will be used to check if a male baby has hemophilia.
• How common is hemophilia?
• Hemophilia is quite rare. About 1 in 10,000 people are born with hemophilia A. About 1 in 50,000 people are born with hemophilia B.
• What are the signs of hemophilia?
• The signs of hemophilia A and B are the same.
• • Big bruises
• • Bleeding into muscles and joints, especially the knees, elbow, and ankles
• • Spontaneous bleeding (sudden bleeding inside the body for no clear reason)
• • Bleeding for a long time after getting a cut, removing a tooth, or having surgery
• • Serious internal bleeding into vital organs, most commonly after a serious trauma
• Are bruises dangerous?
• Bruises are very common in children with hemophilia. A bruise is not usually cause for alarm unless it is on the person’s head or neck, the person has a hard time moving, the bruise hurts, the lump in the bruise gets larger or does not go away, or there is numbness, or a tingling feeling along with the bruising. If any of these symptoms are experienced, a physician or local hemophilia treatment center should be consulted.
• Should people with hemophilia avoid aspirin?
• People with hemophilia should not take aspirin (ASA or acetylsalicyclic acid), or anything containing aspirin, because it interferes with the stickiness of the blood platelets and adds to problems with bleeding.
• Paracetamol (acetominophen) is a perfectly safe alternative to aspirin to relieve pain, for example, headaches.
• Should people with hemophilia exercise and play sports?
• Some people with hemophilia do not exercise because they think it may cause bleeds, but exercise can actually help prevent bleeds. Strong muscles help protect someone who has hemophilia from spontaneous bleeds and joint damage.
• Sport is an important activity for young people. It not only helps build their muscles, it helps them develop mental concentration and coordination, and learn about being part of a team. However, some sports are riskier than others, and the benefits must be weighed against the risks. The severity of a person’s hemophilia should also be considered when choosing a sport. Sports like swimming, badminton, cycling, and walking are sports that most people with hemophilia can safely participate in, whilst sports like American football, rugby, and boxing are not recommended for people with hemophilia.
• What are inhibitors?
• Inhibitors are antibodies to factor VIII or factor IX made by the body’s immune system that attack and destroy the factor VIII and IX proteins in clotting factor concentrates, making treatment ineffective. They appear almost exclusively in patients with severe hemophilia. There is some controversy over the precise incidence (number of new cases) of inhibitor development, but it is generally accepted that between 10 and 30 percent of people with severe hemophilia A will develop inhibitors at some stage. By contrast, inhibitor development in hemophilia B is very rare indeed, and seen in 1 to 3 percent of subjects. Most inhibitors emerge after relatively few treatments. In general, the more treatments a person has had without developing inhibitors, the less likely he is to develop an inhibitor.
• Treatments exist that can sometimes eliminate inhibitors. In other cases, they disappear naturally. In other cases, they continue for many years.
• What is prophylaxis?
• Prophylaxis is the regular use of clotting factor concentrates to prevent bleeds before they start. Injections of clotting factor are given one; two or three times a week to maintain a constant level of factor VIII or IX in the bloodstream. Prophylaxis can help reduce or prevent joint damage. In countries with access to adequate quantities of clotting factor concentrates, this is becoming the normal mode of treatment for younger patients, and can be started when the veins are well developed (usually between the ages of two and four years).
• What is a venous access device (port-a-cath)?
• A port-a-cath, or implantable venous access device (IVAD), is implanted under the skin, usually in the upper chest but there are models which can be inserted into the arm. It has a small metal reservoir with a rubber diaphragm, which is connected to a catheter, which is then threaded into a large vein in the chest or arm. The entire device is surgically implanted under the skin so there is no catheter that hangs out of the body. The device provides ready access to a vein for administering medications and fluids intravenously. It can also be used for drawing blood samples.
• The device is accessed by inserting a special needle through the skin and into the rubber diaphragm of the reservoir. The medication or fluid is injected into the device and it flows through the catheter into the vein.
• These devices have made prophylaxis in hemophilia much easier for families because the problems of "finding a vein" for infusion two to three times a week are eliminated. However, there are risks involved with their use, the most worrisome being that of infection. Studies differ but some show an infection rate as high as 50 percent. These infections can usually be treated with intravenous antibiotics but sometimes the device must be removed. Also, there are other studies that show a risk of clots forming at the tip of the catheter. Still, many families have chosen to use the device in spite of the risk because of the benefits. Like any other procedure, one must weigh the risks and benefits.
• Is there a cure for hemophilia?
• There is no cure for hemophilia yet but gene therapy remains an exciting possibility and holds out the prospect of a partial or complete cure for hemophilia. There are many technical obstacles to overcome, but it is encouraging to see the research efforts currently underway.
• What is the life expectancy of someone with hemophilia?
• The life expectancy of someone with hemophilia varies depending on whether they receive proper treatment. 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.

I came across a case of hemophilia so I thought of writing this blog.

Dr Marwah