Hemophilia B, also known as factor IX hemophilia or Christmas disease, is an inherited bleeding disorder that happens when you have little or no blood protein that helps your blood clot. This rare condition is caused by a mutation in your gene that makes your body produce less of this protein than it should.
Hemophilia B
Hemophilia B is an X-linked recessive bleeding disorder caused by a mutation (change) in the factor IX gene. Factor IX is a clotting protein in the blood that helps blood coagulate and form clots. People with hemophilia B lack or have reduced activity of this clotting protein, so they are more likely to have spontaneous bleeding episodes that can damage their joints and other parts of the body. This condition is distinguished from hemophilia A, also known as classic hemophilia or factor VIII deficiency, by the presence of spontaneous joint bleeds and by symptoms such as a painful abdomen and the formation of petechiae (pinpoint red spots on the skin).
The diagnosis of hemophilia B can be established in male probands by identification of decreased factor IX clotting activity. In female probands, the diagnosis is made by a family history of the disease and/or the finding that an individual with factor IX deficiency has an inhibitory variant in the F9 gene, which blocks clotting activity.
Hemophilia B can cause serious complications in untreated individuals, including internal hemorrhages and long-term joint damage. Treatment with clotting factor IX concentrates can significantly improve the quality of life for affected individuals, especially those with severe hemophilia B.
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Newborn boys with hemophilia B should be evaluated and treated as soon as possible. A blood sample should be taken from the umbilical vein (to avoid contamination by amniotic fluid or placenta tissue) for assay of factor IX clotting activity and molecular genetic testing for the family-specific F9 pathogenic variant to establish a diagnosis.
Women at risk for hemophilia B should undergo a thorough evaluation and, if found to be heterozygous for the F9 pathogenic variant, consider genetic counseling regarding prenatal/preimplantation genetic testing and reproductive options. Molecular testing can also determine whether an affected woman’s husband or son is carrying the F9 pathogenic variant and may be at risk of hemophilia B, and can help guide obstetric management. In one retrospective study of 580 infants age birth to two years with hemophilia A and B, 17 suffered intracranial hemorrhages after a vaginal delivery [Kulkarni et al 2009]. However, other studies have reported that planned cesarean section does not increase the risk of hemorrhage for infants with hemophilia B.
Pine Tree Allergies
Pine trees are a festive part of many holiday displays, but their pollen can cause allergy symptoms in people who are sensitive to them. Symptoms can range from runny nose and congestion to itchy eyes, depending on the individual. Typically, pine tree allergies are seasonal, as is the case with many trees and flowers. If you suffer from a pine tree allergy, the pollen from Eastern white pine trees can enter your airways and trigger an overreaction in the immune system, leading to allergic reactions like sneezing, itchy eyes and nasal congestion. The pollen from these trees is most active in the spring, and it tends to exacerbate symptoms for outdoor enthusiasts, gardeners and people who spend time in the forest.
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Allergy testing can confirm if you are allergic to pine trees. Skin prick testing is the most common method, in which a small amount of pine pollen or pine nuts are placed on your skin and then pricked so that the substance is absorbed. The area is then observed for a reaction, such as redness or other changes. A blood test can also be performed to see if your antibodies are responding appropriately to the allergen.
While it is uncommon to be allergic to a pine tree directly, you can experience pine tree syndrome, which is caused by a combination of allergies to pine nut and pine pollen. This can affect any person who is sensitive to these allergens, but can be more problematic in children and adults with existing allergies or asthma.
Symptoms of pine tree allergies can be relieved with over-the-counter antihistamines, nasal sprays and eye drops. A physician may prescribe more long-term relief with allergy injections, which are designed to reduce the body’s response to specific allergens over time.
Allergies to pine nut foods and tree pollen can also be treated with a food challenge, in which you are given a small amount of a potentially allergenic food under a doctor’s supervision to determine whether your symptoms flare up. In severe cases, anaphylaxis can occur, so it is important to seek emergency care if you have a serious reaction.
Christmas Tree Syndrome
Whether real or artificial, Christmas trees dressed in twinkling lights and colorful ornaments bring a special kind of magic to the holidays. But these festive decorations may also introduce some not-so-pleasant symptoms for people who are allergic to mold, insect droppings, pesticides and varying types of pollen. The combination of all these allergens, known as Christmas tree syndrome, can cause runny nose, congestion and sneezing around the holiday centerpiece. These allergy-causing particles can also trigger rashes and itchy eyes and throats, according to experts.
Although most people who experience symptoms around Christmas trees are not allergic to the tree itself, the classic piney scent, which comes from terpenes, can trigger an allergic reaction in some individuals. In addition, the sticky sap of some trees, which contains a chemical called colophony or rosin, can irritate skin and lead to a rash that resembles poison ivy within a day or two of touching the tree.
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The dander from some pets can also be a problem and could result in itchy eyes and a runny nose for people with allergies or asthma. Finally, the chemicals used to spray pesticides on trees at tree farms can also trigger a respiratory response.
People who are prone to the effects of Christmas tree syndrome should choose a species that produces fewer allergens, such as Fraser or Douglas fir trees, and keep them well-watered. Regularly sweeping the floor under and around the tree will help prevent dust from accumulating, while showering every night can wash away allergens from hair and skin. Nasal irrigation with a neti pot or saline rinse bottle can also help clear the sinuses and relieve congestion.
It is also important to continue to follow a written asthma action plan and take allergy medications as prescribed by your doctor, even during the holidays. If you have a history of severe asthma and other allergic reactions, it is recommended that you see an allergist to discuss the best way to minimize symptoms. If you do experience a reaction, contact your allergy specialist immediately. He or she can recommend other medications that will alleviate your symptoms, such as an oral antihistamine, eye drops and steroid nasal sprays.
Hemophilia Treatment
Hemophilia isn’t curable, but treatment can minimize symptoms and prevent bleeding episodes. The main treatment is replacing the missing protein that impairs blood clotting (blood clotting factor replacement therapy). Doctors at Hassenfeld Children’s Hospital at NYU Langone give this medication through a tube in one of your child’s veins or through a small butterfly needle in his or her skin. They may do this for an active bleeding episode or on a regular schedule to prevent future bleeding episodes. The clotting factor can be made from donated human blood or from products made in the laboratory, called recombinant clotting factors. Your child might also receive a hormone called desmopressin, which stimulates your child’s body to release more clotting factor. This is given slowly into a vein or as a nasal spray.
Hemophilia A and B are diagnosed through blood tests that show if your child’s blood is clotting properly. The blood test can also tell if your child has mild or severe hemophilia. Girls don’t have routine blood tests to detect hemophilia, so it’s important for them to see a specialist when they start getting heavy periods or have other signs of bleeding disorders.
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Symptoms of hemophilia A and B in infants and toddlers include internal bleeding, especially in the joints of the ankles, knees, hips or shoulders, that causes pain and swelling. Babies and toddlers with severe hemophilia might bleed from their mouths after bumping their heads. Bleeding in the brain is rare, but can cause headaches, double vision or make your child feel very sleepy.
People with hemophilia who get regular treatment are expected to live longer than those without the condition. They are less likely to have life-threatening complications from surgery or accidents and can participate in most activities.
Children with hemophilia should see their comprehensive care team every six to 12 months for follow-up appointments and treatment of new problems. In addition, they should tell all healthcare providers and family members about their bleeding disorder so they can help with early diagnosis and treatment. They should also let their healthcare provider know about any over-the-counter medications they take, including ibuprofen, naproxen or aspirin, which might increase bleeding.
