Medication
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low. Clotting factor concentrates can be made from human blood.
Therapy
Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. It is known as a factor VIII (8) mimetic because it mimics, or imitates, the way factor VIII (8) works. It brings together factor IX (9) and factor X (10), which allows the blood to clot.
Self-care
Treatments for hemophilia include: Receiving clotting factors replacement therapy Medication Treatment for joint bleeding and other problems associated …
Nutrition
· Hemophilia A can be treated with medication to prevent bleeding. The treatments can include replacements for factor VIII, a blood-clotting protein deficient in people who have this condition. Other specific treatments can be used to prevent bleeding as well.
What is the life expectancy for people with hemophilia?
The treatment for a person with hemophilia is to put the clotting factor he is missing into his body. This is called " factor replacement therapy ." Most people with hemophilia just call it "taking factor". The factor, also known as factor concentrate, comes as a white powder in a glass vial.
How much does it cost to treat hemophilia?
· Replacement of the congenitally deficient factor VIII or IX through plasma-derived or recombinant concentrates is the mainstay of treatment for hemophilia.
How do you cure hemophilia?
6 rows · · The main aim of hemophilia treatment is to prevent life-threatening bleeding and/or treat muscle ...
What is hemophilia and how is it treated?
Summary. Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. People with Hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury ...
How did hemophilia used to be treated?
Some of the early treatments used for hemophilia included lime, bone marrow, oxygen, thyroid gland, hydrogen peroxide or gelatin. In the 1930s, snake venom was used to help blood clotting. Hospital-based plasma transfusions were common treatments for hemophiliacs in the late 1920s and continued until the 1950s.
Are there any cures for hemophilia?
There is currently no cure for hemophilia, a rare bleeding disorder.
What is the mainstay of treatment for hemophilia?
Replacement of the congenitally deficient factor VIII or IX through plasma-derived or recombinant concentrates is the mainstay of treatment for hemophilia.
How do you stop bleeding from hemophilia?
1. First, control the bleeding:Apply pressure with sterile gauze, a bandage, or a clean cloth.Place another bandage over the first if blood soaks through the bandage, and continue to apply pressure.Raise the injured body part to slow bleeding.
What is replacement therapy for hemophilia?
Hemophilia can be treated by replacing missing blood clotting factors. This is called clotting factor replacement therapy. Clotting factors are replaced by injecting (infusing) a clotting factor concentrate into a vein. Infusions of clotting factors help blood to clot normally.
How do you treat hemophilia with inhibitors?
About Inhibitors People with hemophilia, and many with VWD type 3, use treatment products called clotting factor concentrates (“factor”). These treatment products improve blood clotting, and they are used to stop or prevent a bleeding episode.
What is the first line treatment for moderate to severe hemophilia A?
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.
What are inhibitors in hemophilia?
An inhibitor is an immune system response to infused clotting factor concentrates, which renders standard replacement therapy ineffective. An estimated 1/3 to 1/5 of people with severe hemophilia A and 1% to 4% of those with severe hemophilia B may develop an inhibitor.
How to treat hemophilia?
The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein.
How to help a child with hemophilia?
To help you and your child cope with hemophilia: Get a medical alert bracelet. This bracelet lets medical personnel know that you or your child has hemophilia, and the type of clotting factor that's best in case of an emergency. Talk with a counselor.
What are some exercises to help with hemophilia?
Exercise regularly. Activities such as swimming, bicycle riding and walking can build muscles while protecting joints. Contact sports — such as football, hockey or wrestling — are not safe for people with hemophilia.
How to stop bleeding under the skin?
For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth. Vaccinations. Although blood products are screened, it's still possible for people who rely on them to contract diseases.
How to treat internal bleeding?
If internal bleeding has caused severe damage, you may need surgery. First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack.
What is the best way to prevent clots from breaking down?
It can be injected slowly into a vein or provided as a nasal spray. Clot-preserving medications. These medications help prevent clots from breaking down. Fibrin sealants. These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
What is a recombinant clotting factor?
Similar products, called recombinant clotting factors, are manufactured in a laboratory and aren't made from human blood. Other therapies may include: Desmopressin. In some forms of mild hemophilia, this hormone can stimulate your body to release more clotting factor.
What is the treatment for hemophilia?
The main treatment for hemophilia is called replacement therapy . Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low. Clotting factor concentrates can be made from human blood.
What percentage of people with hemophilia A have antibodies?
These antibodies, also called inhibitors, develop in about 20–30 percent of people who have severe hemophilia A. Inhibitors develop in 2–5 percent of people who have hemophilia B. When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes the antibodies go away.
Why is home treatment important?
Home treatment helps children accept treatment and take responsibility for their own health. Discuss options for home treatment with your doctor or your child's doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment.
What is replacement therapy?
You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.
Can clotting factors cause hepatitis?
Viruses from human clotting factors. Clotting factors made from human blood can carry the viruses that cause HIV/AIDS and hepatitis. However, the risk of getting an infectious disease from human clotting factors is very small due to:
How to treat bleeding disorders?
Treatment Options for Bleeding Disorders 1 Standard half-life therapies: Standard half-life therapies are used to treat hemophilia A and B, some types of von Willebrand disease, and some rare factor disorders. Dosing can be anywhere from three times a week to every day, depending on the person. 2 Extended half-life (EHL) therapies: EHL contains a molecule that has been modified in some way to delay the breaking down of factor in the body. This results in higher levels of factor in the body lasting for longer, resulting in less frequent infusions. How long the factor is effective in the body depends on the person. Extended half-life therapies are mostly used to treat hemophilia A and B. 3 Bypassing agents are used to treat bleeds in people with hemophilia with inhibitors. These treatments contain other factors that can stimulate the formation of a clot and stop bleeding.
What is the best medicine for a blood clot?
Aminocaproic acid (Amicar) prevents the breakdown of blood clots. It is often recommended before dental procedures, and to treat nose and mouth bleeds. It is taken orally, as a tablet or liquid. MASAC recommends that a dose of clotting factor be taken first to form a clot, then aminocaproic acid, to preserve the clot and keep it from being broken down prematurely. This can be used to manage bleeding in people with hemophilia A, B and VWD.
What is emicizumab used for?
Emicizumab (Hemlibra) is a therapy used to treat hemophilia A, to prevent bleeding episodes in people both with and without inhibitors. It is known as a factor VIII (8) mimetic because it mimics, or imitates, the way factor VIII (8) works.
What is extended half life therapy?
Extended half-life therapies are mostly used to treat hemophilia A and B. Bypassing agents are used to treat bleeds in people with hemophilia with inhibitors. These treatments contain other factors that can stimulate the formation of a clot and stop bleeding.
What is EHL therapy?
Extended half-life (EHL) therapies: EHL contains a molecule that has been modified in some way to delay the breaking down of factor in the body. This results in higher levels of factor in the body lasting for longer, resulting in less frequent infusions. How long the factor is effective in the body depends on the person.
What is factor replacement therapy?
Factor replacement therapies: Often referred to as “factor,” these products use a molecule that is either similar to natural factor found in humans (recombinant) or use an actual human molecule (plasma derived.) These treatments increase the amount of factor in the body to levels that lead to better clotting, and therefore less bleeding. The therapy is taken intravenously via an injection into a vein. This process is also called "infusion." There are two types of factor replacement therapies: standard half-life (SHL) and extended half-life (EHL)
What are the complications of hemophilia?
Complications from treatment for hemophilia include: 1 Acquiring a blood-borne disease 2 Changes to the immune system that make the treatment less effective
What is the purpose of a lab test for hemophilia?
These tests help doctors diagnose the type of hemophilia and its severity.
How to treat a bleed in a joint?
For bleeding joints, you must get treatment with clotting factor to avoid joint damage. Your doctor may also recommend resting and icing the affected joint to decrease pain and swelling. As pain and swelling subsides, physical therapy may help you recover joint mobility and strength.
What is the name of the clotting factor VIII derived from pigs?
A form of clotting factor VIII derived from pigs called Obizur stops bleeding episodes in people with acquired hemophilia A. This rare, dangerous form of the disease is not inherited.
Do clotting factors have to be used as often?
Newer types of these clotting factor products have been developed so they can last longer in the body. This means that they do not have to be used as often. Other medicines have also been developed to work with the clotting factors to stop bleeding.
Do you need to be treated for hemophilia?
For instance, if you have mild hemophilia, you may need treatment only when you've been injured or in preparation for surgery. However, if you have severe hemophilia and bleed frequently, you may need regular treatment to help prevent ble eding and help protect your joints from deformity and disability.
What is the plug in the blood called?
Normally, when bleeding begins, a complex series of chemical events produces a "plug" to stop the bleeding; this plug is called a fibrin clot. The fibrin clot is the end-product of many different "clotting factors" reacting in the blood. Hemophilia is an inherited condition in which one of these clotting factors (mainly factor VIII or IX) ...
How to treat hemophilia A?
Hemophilia A can be treated with medication to prevent bleeding. The treatments can include replacements for factor VIII, a blood-clotting protein deficient in people who have this condition. Other specific treatments can be used to prevent bleeding as well.
What is the name of the drug that is used to treat hemophilia A?
Hemlibra (emicizumab): This medication works like factor VIII to help the blood clot. This treatment is injected subcutaneously (under the skin). Emicizumab is approved by the Food and Drug Administration (FDA) to treat hemophilia A with or without inhibitors.
What is the best treatment for joint pain?
Joint pain can be treated with prescription medication, including prescription-strength NSAIDs that do not affect bleeding. 1
What is the medication that is taken by mouth to prevent blood clots?
Amicar (aminocaproic acid): This medication is taken by mouth as a pill or liquid to prevent the breakdown of blood clots. Your doctor might prescribe this for you if you have a bleed or before you have a surgical procedure. 3
What is the treatment for bleeds?
Desmopressin (DDAVP): This treatment imitates the action of vasopressin, an antidiuretic hormone that helps stop bleeding. It is available as a nasal spray or as an injection. Sometimes this treatment is used before or after surgery or when a bleed occurs. However, DDAVP nasal spray has been recalled by the manufacturer until 2022. 3
How to prevent infection in a wound?
It’s also important to prevent an infection by keeping it clean and placing a bandage over the open wound until it heals.
How to slow down bleeding after a cut?
If you get a cut, you might be able to slow down the bleeding by holding pressure over it or by putting ice on it. Don’t place ice directly on your skin—make sure the ice is wrapped to ensure that your skin doesn’t get too cold.
How to treat hemophilia in children?
Replacement of the congenitally deficient factor VIII or IX through plasma-derived or recombinant concentrates is the mainstay of treatment for hemophilia. Concentrate infusions when hemorrhages occur typically in joint and muscles (on-demand treatment) is able to resolve bleeding, but does not prevent the progressive joint deterioration leading to crippling hemophilic arthropathy. Therefore, primary prophylaxis, ie, regular infusion of concentrates started after the first joint bleed and/or before the age of two years, is now recognized as first-line treatment in children with severe hemophilia. Secondary prophylaxis, whenever started, aims to avoid (or delay) the progression of arthropathy and improve patient quality of life. Interestingly, recent data suggest a role for early prophylaxis also in preventing development of inhibitors, the most serious complication of treatment in hemophilia, in which multiple genetic and environmental factors may be involved. Treatment of bleeds in patients with inhibitors requires bypassing agents (activated prothrombin complex concentrates, recombinant factor VIIa). However, eradication of inhibitors by induction of immune tolerance should be the first choice for patients with recent onset inhibitors. The wide availability of safe factor concentrates and programs for comprehensive care has now resulted in highly satisfactory treatment of hemophilia patients in developed countries. Unfortunately, this is not true for more than two-thirds of persons with hemophilia, who live in developing countries.
What is hemophilia A and B?
Hemophilia A and B are congenital bleeding disorders caused by a deficiency or complete absence of coagulation factor VIII (FVIII) or factor IX (FIX), respectively. These X-linked disorders represent the large majority of inherited deficiencies of clotting factors, occurring in approximately one per 5000 and one per 50,000 male births, with no racial predilection.1According to their residual endogenous FVIII/FIX concentrations, individuals with a factor level <1 IU/dL are classified as severe hemophiliacs and represent about half of diagnosed cases. Subjects with factor levels between 1–5 IU/dL and >5 IU/dL have moderate and mild hemophilia, respectively. Although the bleeding phenotype may be rather heterogeneous, even in severe hemophiliacs,2this classification reflects the severity of clinical symptoms, with spontaneous joint and muscle bleeds being largely confined to patients with severe hemophilia.
How early can you start prophylaxis?
Although there is general agreement among investigators that early initiation of prophylaxis (usually before two years of age) is ideal, there is still debate about the intensity of treatment regimens32and how to initiate prophylaxis, as shown in Table 5. In this respect, barriers to early implementation of prophylaxis are the need for frequent venous access and adequate training of families for home treatment, in order to maximize adherence to such a highly demanding treatment, the perceived need for which and knowledge of benefits are often poor.33These problems and the differences in patient bleeding patterns (approximately 10% of severe hemophiliacs are mild bleeders and variability in the age of first joint bleed has been reported)2,12led to individualization in implemention of full-dose primary prophylaxis after an early start of treatment using step-up regimens. While the Swedish approach encompasses a brief temporary once-a-week infusion step, with the aim to escalate children quickly towards twice-weekly infusions and then to three infusions per week as full prophylaxis, based on the availability of adequate peripheral veins or, more rarely, on the bleeding frequency,34the Canadian approach consists of a more gradual escalation based on the number of joint bleeds, comprising once-weekly infusions at a dose of 50 IU/kg started between one and two years of age, with a clinical follow-up every three months. Patients experiencing three bleeds in the same joint or four total bleeds over a three-month period then have an increase in their prophylaxis dose by infusion of 30 IU/kg twice weekly and then by a regimen of 25 IU/kg every other day.35Interestingly, in the Canadian experience, 40% of children maintained the once-weekly infusion and 16% reached the full-dose prophylaxis regimen over a median 4.1-year follow-up. However, long-term follow-up studies of patients treated with such regimens are needed to evaluate the possible impact on joint outcome (the development of target joints in 22.5% of children has raised some concerns).35Nevertheless, the gradual, escalating introduction of prophylaxis allows patients and families to accept peripheral venipunctures better psychologically, enables development of robust veins capable of being punctured more frequently, achieves independence for home treatment. Both the Swedish and Canadian experiences resulted in a significantly diminished need for central venous access devices (CVADs).
What is acceptance of treatment?
Acceptance of treatment (poor perceived need and knowledge of benefits, heterogeneity of bleeding phenotype)
What is hemophilic arthropathy?
Prevention/reduction of joint and muscle impairment (hemophilic arthropathy) → reduction of physical restrictions and ability to participate in physical activities and sports
When to start long term continuous treatment?
Long-term continuous*treatment not fulfilling the criteria for primary prophylaxis, ie, started after two or more joint bleeds or at age > two years
Does hemophilia cause a low frequency of bleeds?
The recognition that patients with moderate or mild hemophilia (who have FVIII/FIX levels >1%) show a low frequency of joint bleeds and rarely develop severe arthropathy17led to definition of the pathophysiologic background and pioneer prophylaxis regimens in Sweden. The aim of treatment was (and still is) to minimize the number of joint bleeds from an early age by converting the severe form of hemophilia to a milder form, in order to prevent or reduce musculoskeletal impairment from hemophilic arthropathy. Prophylaxis in hemophilia is defined as the infusion of factor replacement concentrates in order to prevent bleeding, and usually refers to a regular, continuous long-term regimen of treatment, as shown in Table 3. The results of the Swedish18,19and of subsequent, retrospective, uncontrolled studies16,20–23documented the clinical and social benefits of different prophylaxis regimens, in terms of reduction of frequency of total and joint bleeds and, in particular, on long-term clinical outcome in terms of arthropathy, assessed by clinical and radiologic scores, and of patient quality of life, as reported in Table 4. These studies also showed that the earlier the start of prophylaxis, the better the results for patient joint status. These findings led to the current definitions of prophylaxis,24,25which is focused on the prevention of joint abnormalities, in order to enable normal life and psychosocial development for hemophilic children, including the possibility of physical activities, regular school attendance and, consequently, social and work opportunities. Even though the number of joint bleeds resulting in irreversible joint damage is still unknown,4recent revisions by the European Pediatric Network for Haemophilia Management group25now define primary prophylaxis as regular long-term regimens started before the age of two years, after the first joint bleed (A), or in the absence of clinically evident joint bleeds (B). Treatment started after the age of two years or after two or more joint bleeds is considered to be secondary prophylaxis, and is aimed at avoiding (or delaying) the progression of joint damage.25,26
What is the main aim of hemophilia treatment?
The main aim of hemophilia treatment is to prevent life-threatening bleeding and/or treat muscle and joint bleeding. Early, treatment was limited to on-demand therapy, ie, the infusion of concentrate after the occurrence of the bleeding, also allowing the home therapy a prompt and successful treatment.43
When was hemophilia first treated?
After assessing that hemophilia was due to the lack of a plasma clotting factor,9the disease’s first treatment was introduced in 1948 by the infusion of plasma from healthy blood donors.10In 1958, Nilsson 1M and Blomback B in Sweden successfully treated HA patients with a globulin fraction of human plasma purified by the Cohn’s fractionation method and contained in the fraction 1-0.11At about the same time, in 1964, a new era of hemophilia therapy started after the discovery of cryoprecipitate from the plasma of a single blood donor.12,13Unfortunately, cryoprecipitate’s specific activity was relatively low (FVIII:C 0.2 IU/mg/mL).13,14The need for production and storage at −20°C in plastic bags made this approach to hemophilia therapy cumbersome and inconvenient. Furthermore, each cryoprecipitate bag contained only about 100 IU of FVIIl. A hypothetical dose of 20–30 IU/kg required the administration of about 14 or 21 bags to a PWH of 70 kg body weight. The pharmaceutical industry soon began producing lyophilized FVIII concentrates, starting from a large pool of plasma. Again, the first step was the cryo-precipitation of the plasma, but purification methods allowed the production process to achieve a remarkably high specific activity, mainly through immunoaffinity chromatography with monoclonal antibodies specific for FVIll. Unfortunately, the concentrates from large plasma pools and the single donor cryoprecipitates were contaminated by the hepatitis viruses15even though the infection risk was lower for cryoprecipitates.16Later, HIV transmission occurred in 75% of HA patients treated with commercial clotting factor concentrates17but only in 20% of those treated with single donor cryoprecipitates,18possibly since the donors were known to the patient, typically a parent. HIV transmission occurred in more than 50% of the PWH in the United States;19In Italy, probably due to the large availability of the first Prothrombin Complex Concentrates,20the prevalence of HIV infection was 47.1% in people with hemophilia B but 26.8% among those with hemophilia A.21Before the end of the last millennium, three significant advances in the manufacturing process of concentrates impacted the viral safety of products used for replacement therapy:
What is the name of the procedure that extends the HL?
pegylation, the linkage of the molecule with PEG (Rebinyn/Refixia®, Novo Nordisk), which had been a successful procedure for many other drugs to extend their HL;
How often should I give a FVIII?
The prominent feature limiting the benefit of prophylaxis has been the need for frequent, repeated iv infusions every 2–3 days for FVIII and every 5–7 days for FIX concentrates, respectively. The pharmaceutical industry has developed some biochemical methods to increase the HL of concentrates in an effort to reduce the burden of the treatment on patients, especially for young patients. The ability to prolong the plasma half-life and extend the interval between injections followed the application of methods to conjugate the factor molecule with the fragment crystallizable (Fc) of IgG1 or albumin or by adding polyethylene glycol (PEG), which has led to a significant extension of the half-life of concentrates, especially for rFIX. Modifications were first applied to rFIX:
Why is it important to prevent bleeding with replacement therapy?
The aim of replacement therapy is to prevent fatal bleeding and the effects of bleeding on the joints and muscles . Some patients can recognize the symptoms forecasting the bleeding, the so-called “aura.” However, prevention of bleeding is better than treating bleeding with on-demand replacement therapy because, in the short-run, joint inflammation leads to new bleeding and starts a vicious circle that ends in severe arthropathy . Therefore, prevention of bleeding, so-called prophylaxis, was hypothesized to result in better outcomes than on-demand therapy, especially if a minimum trough level was maintained in the plasma. Maintaining the trough level of FVIII or FIX above 3–5 IU/dL is sufficient to reduce the number of bleeding events to one or two episodes every year.48
How much factor should I use for hemophilia?
The observation that in hemophilia patients moderate (FVIII/IX: 1–5 IU/dL) or mild disease (FVIII/IX: 5–40 IU/dL), bleeding was uncommon or absent suggested that increasing the factor level with an adequate amount of FVIII/IX concentrate every two or three other days to maintain the FVIII/FIX plasma concentration above 1IU/dL might prevent bleeding. According to a study conducted in the Netherlands, only a baseline FVIII of at least 12 IU/dL was able to entirely abolish the risk of joint bleeding. Another study from the US examined data collected over an 11-year period from males with non-severe hemophilia A or B without inhibitors who were treated on-demand with factor therapy. These authors showed that levels of 20% may be required to prevent all joint bleeding.47Another study from the Netherlands showed that PWH who have a baseline factor activity of at least 5 IU/dL experience one episode of joint bleeding each year while those with a baseline level of 3 IU/dL experience two episodes yearly.48Unfortunately, even a single episode of joint bleeding may trigger hemophilia arthropathy.49
Is HB more severe than HA?
Generally, HB is considered less severe than HA,2–4, but there is not complete agreement on this issue.5,6We observed that arthropathy in Italy was less frequent in HB patients than in HA.7The difference in genotypes of the two diseases seems to be the reason for this discrepancy. In severe HA, the inversion of intron 22 results in an extreme change of the F8gene sequence and is the causative mutation in about 50% of the patients. In comparison, in HB, the small and complete deletion of the F9gene represents only 17%, and missense mutations account for 55% of cases.8Missense mutations represent about 75% of moderate and 16% of severe HA, respectively. The more severe manifestations of joint and muscle bleeding are cartilage damage and synovial inflammation and hypertrophy developing into a chronic debilitating arthropathy. The muscle and skeletal derangement may soon cause a limitation of movements during daily activities with a consequent decrease in patients’ quality of life.
What is hemophilia A?
Listen. Hemophilia A is an inherited bleeding disorder in which the blood does not clot normally. [1] [2] [3] People with hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild. In severe cases, heavy bleeding occurs after minor injury or even when there is no injury ...
What are the symptoms of hemophilia A?
The symptoms of hemophilia A and the age symptoms appear vary depending on the amount of factor VIII a person’s body makes. Infants with the severe form may bleed abnormally from their mouth and develop ‘goose eggs’ on their heads (collections of blood under the scalp).
When a male child is the first person in a family with hemophilia A, further testing may be
When a male child is the first person in a family with hemophilia A, further testing may be needed to determine if the child inherited the disorder from his mother, or if the mutation occurred by chance for the first time in the child. [2]
Is hemophilia inherited?
The F8 gene is located on the X- chromosome. Therefore, hemophilia A is inherited in an X-linked recessive pattern. [1] [2] In males (who have only one X chromosome ), one mutated copy of the F8 gene in each cell is enough to cause hemophilia A. In females (who have two X chromosomes), a mutation needs to occur in both copies of the F8 gene to cause the disorder. Because it is unlikely that females will have two mutated copies of this gene, hemophilia A, like other X-linked recessive disorders, affects males much more frequently than females. Females who have a mutation in one copy of the F8 gene are called carriers. Most carriers have no signs or symptoms, however about 10% of female carriers of hemophilia A will experience some abnormal bleeding. [2]
Why is hemophilia A not spontaneous?
Hemophilia A is caused by having low levels of a protein called factor VIII. Factor VIII is needed to form blood clots.
How to find a doctor for a syphilis?
You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
What is the HPO database?
People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources.
Diagnosis
Treatment
Clinical Trials
Lifestyle and Home Remedies
Specialist to consult
Coping and Support
Preparing For Your Appointment
- The main treatment for severe hemophilia involves replacing the clotting factor you need through a tube in a vein. This replacement therapy can be given to treat a bleeding episode in progress. It can also be given on a regular schedule at home to help prevent bleeding episodes. Some people receive continuous replacement therapy. Replacement clotti...