Hemophilia

Hemophilia is a rare genetic bleeding disorder that prevents the blood from clotting properly. About one in every 8,000 boys is born with hemophilia. It is inherited as an X-linked disorder which means an affected male cannot pass the gene for hemophilia to his sons, but his daughters will be carriers of the disease gene. Every female who carries the gene for hemophilia has about a one in four chance of having a child who has hemophilia. Human blood contains special proteins, known as clotting factors, which help stop bleeding. People with hemophilia are deficient in one of those factors, either factor VIII or IX and as a result, their blood cannot clot properly. Hemophilia A, also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B, which comprises the majority of the remaining 20%, is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood.

A patient with hemophilia may only bleed occasionally, whereas another patient with a milder form may bleed more often. About 30% of infant males with hemophilia bleed excessively with circumcision and 1% to 2% of newborns with hemophilia may have an intracranial hemorrhage (bleeding within the skull). Once babies with hemophilia begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back. The most common type of bleeding in hemophilia involves muscles and joints. A child with hemophilia will usually refuse to move the affected joint or muscle because of pain and swelling. Recurrent joint bleeding can also lead to chronic damage. Other signs may be prolonged nosebleeds, excessive bleeding following a tooth extraction or surgery, blood in the urine, or heavy menstrual periods in adolescents.

Diagnosing the condition requires doing a complete blood count (CBC) and a set of blodd tests to assess the clotting ability of the blood including prothrombin time (PT), activated partial thromboplastin time (PTT), factor VIII level, and factor IX level.

Although hemophilia is a lifelong condition with no cure, it can be successfully managed with clotting factor replacement therapy - periodic infusions of the deficient factor into the bloodstream. Factor replacement may be given through an intravenous (IV) line either at the hematology clinic or at home by a visiting nurse or by parents (and even older patients) who have undergone special training. The development of recombinant clotting factors has virtually eliminated the danger of transfusion-related infection of HIV or hepatitis viruses from clotting factor replacement therapy. Many patients prevent bleeds by infusing clotting factors on a regular basis (usually two or three times per week). Between 14% and 25% of children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the clotting factor as a foreign body and develop inhibitors to fight it off. This can make the hemophilia difficult to treat. A new medication called recombinant factor VII has helped many patients with inhibitors. It activates another part of the coagulation process directly and bypasses the deficiencies.

Regular home-based infusions have helped reduce the joint problems the condition caused in the past. Thanks to advances like these, children with hemophilia can now participate in a wide range of sports and have the freedom to live more active lives. Swimming is strongly encouraged because it exercises all the muscle groups without putting stress on the joints.

Preventing injuries is important, especially for infants and young children. When your child is an infant, you should put bumper pads in the crib, cushion furniture with sharp edges, and put gates across stairs to prevent falls. As your baby begins to crawl and walk, special knee and elbow pads can offer protection against joint bleeds. If your house has ceramic tile or hardwood floors, consider installing carpet or buying rugs to soften the floor surface. A rambunctious and adventurous toddler might need to wear a helmet to protect against head injuries. Dental cleanings can sometimes cause bleeding. For this reason, it's important that your child's dentist knows about your child's condition.

Your child will need to be followed by a hematologist who specializes in treating blood disorders. If your child is bleeding, he may need to be hospitalized, depending on the severity. Any injury affecting the brain or any part of the central nervous system or a vital organ should be treated as an emergency and you child should be taken to the hospital.

Acetaminophen (such as Tylenol) is the preferred pain reliever because many other over-the-counter pain medications contain aspirin or NSAIDs (non-steroidal anti-inflammatory drugs such as ibuprofen or naproxen sodium), which can affect blood platelets and lead to increased bleeding. Bleeds must be treated promptly because prolonged bleeding can cause joint disorders. The accumulation of blood in the joint spaces can erode the smooth surfaces that allow limbs to bend easily. This can lead to chronic joint damage that may require surgery to remove the damaged joint tissue .