Hemophilia B
Hemophilia A
Factor IX
Factor VIII
Genetic Therapy
Blood Coagulation Factor Inhibitors
Dependovirus
Hemarthrosis
Blood Coagulation Disorders, Inherited
Antibodies, Heterophile
Partial Thromboplastin Time
Genetic Vectors
Factor VIIa
Blood Coagulation
Dogs
Animals, Inbred Strains
Factor IXa
Hemostasis
Pedigree
Factor VII
Gene Transfer Techniques
Factor VIIIa
Mutation
Antibodies
Hemostatics
Prenatal Diagnosis
von Willebrand Diseases
The rhesus macaque as an animal model for hemophilia B gene therapy. (1/332)
We have determined the 2905 nucleotide sequence of the rhesus macaque factor IX complementary DNA (cDNA) and found it to be greater than 95% identical to that of the human factor IX cDNA. The cDNA has a large 3' untranslated region like the human cDNA, but unlike the human cDNA has two polyadenylation sites 224 nucleotides apart that are used for transcription of the messenger RNA. The deduced amino acid sequence is greater than 97% identical to that of human factor IX, differing in only 11 of 461 amino acids in the complete precursor protein. We found a single silent polymorphism in the nucleotide sequence at the third position of the codon for asparagine at position 167 in the secreted protein (AAC/AAT). All residues subject to posttranslational modifications in the human protein are also found in the rhesus factor IX sequence. The high degree of homology between the rhesus and human factor IX proteins suggested the possibility that the human factor IX protein might be nonimmunogenic in the rhesus. We tested the immunogenicity of human factor IX in three rhesus macaques by repeated intravenous injections of monoclonal antibody-purified, plasma-derived human factor IX over the course of more than a year and assessed the recovery and half-life of the infused protein, as well as in vitro indicators of antihuman factor IX antibodies. Human factor IX recovery and half-life remained unchanged over the course of a year in the three animals studied, and aPTT mixing studies showed no evidence for neutralizing antihuman factor IX antibodies. An outbred, nonhuman primate model that permits assessment of the level and duration of factor IX expression as well as vector safety would complement the use of other (mouse and canine) hemophilia B animal models in current use for the development of gene therapy for hemophilia B. (+info)Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. (2/332)
Mice generated by disrupting the clotting factor IX gene exhibit severe bleeding disorder and closely resemble the phenotype seen in hemophilia B patients. Here we demonstrate that a single intraportal injection of a recombinant adeno-associated virus (AAV) vector encoding canine factor IX cDNA under the control of a liver-specific enhancer/promoter leads to a long-term and complete correction of the bleeding disorder. High level expression of up to 15-20 microgram/ml of canine factor IX was detected in the plasma of mice injected with 5.6 x 10(11) particles of an AAV vector for >5 months. The activated partial thromboplastin time of the treated mice was fully corrected to higher than normal levels. Liver-specific expression of canine factor IX was confirmed by immunofluorescence staining, and secreted factor IX protein was identified in the mouse plasma by Western blotting. All treated mice survived the tail clip test without difficulty. Thus, a single intraportal injection of a recombinant adeno-associated virus vector expressing factor IX successfully cured the bleeding disorder of hemophilia B mice, proving the feasibility of using AAV-based vectors for liver-targeted gene therapy of genetic diseases. (+info)Persistent expression of canine factor IX in hemophilia B canines. (3/332)
We previously demonstrated that direct intramuscular injection of recombinant adeno-associated virus (rAAV) carrying the human FIX (hFIX) cDNA can safely be administered to hemophilic B canines and express human factor IX protein; however, the functional activity of the hFIX protein could not be assessed due to anti-human FIX antibody (inhibitor) formation. To test the therapeutic efficacy of rAAV in hemophilic dogs, rAAV type 2 (rAAV2) carrying canine FIX (cFIX) cDNA was injected into the skeletal muscle of two dogs at doses of 1012-13particles. Circulating cFIX protein levels were maintained for 1 year at levels of 1-2% of normal. Hemostatic correction (WBCT and APTT) paralleled plasma FIX antigen levels. Both dogs still required plasma infusion for spontaneous and traumatic bleeding events. Inhibitors to cFIX protein were not detected in either animal by Bethesda assay. Neutralizing antibodies directed against AAV-2 capsid were pronounced and persistent. Vector DNA and mRNA transcripts were detected only at the injected skeletal muscle tissue. Analysis of both high and low molecular weight DNA identified both replicative episomal and integrated AAV species. These results demonstrate that persistent secretion of the FIX transgene protein, necessary for successful gene therapy of hemophilia B, can be achieved using the parvovirus-based rAAV vector (+info)Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. (4/332)
A population-based study of hemophilia B mutations was conducted in the United Kingdom in order to construct a national confidential database of mutations and pedigrees to be used for the provision of carrier and prenatal diagnoses based on mutation detection. This allowed the direct estimate of overall (micro), male (v), and female (u) mutation rates for hemophilia B. The values obtained per gamete per generation and the 95% confidence intervals are micro;=7.73 (6. 29-9.12&parr0;x10-6; v=18.8 (14.5-22.9&parr0;x10-6; and u=2.18 (1. 44-3.16&parr0;x10-6. The ratio of male-to-female mutation rates is 8. 64, with a 95% confidence interval of 5.46-14.5. The higher male rate was not caused by a much higher rate of transition at CpG sites in the male. Attempts to detect evidence of gonadal mosaicism for hemophilia B mutation in suitable families did not detect any instances of ovarian mosaicism in any of 47 available opportunities. This suggests that the risk of a noncarrier mother manifesting as a gonadal mosaic by transmitting the mutation to a second child should be <0.062. (+info)Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. (5/332)
We estimated the rates per base per generation of specific types of mutations, using our direct estimate of the overall mutation rate for hemophilia B and information on the mutations present in the United Kingdom's population as well as those reported year by year in the hemophilia B world database. These rates are as follows: transitions at CpG sites 9.7x10-8, other transitions 7.3x10-9, transversions at CpG sites 5.4x10-9, other transversions 6.9x10-9, and small deletions/insertions causing frameshifts 3.2x10-10. By taking into account the ratio of male to female mutation rates, the above figures were converted into rates appropriate for autosomal DNA-namely, 1.3x10-7, 9.9x10-9, 7.3x10-9, 9.4x10-9, 6.5x10-10, where the latter is the rate for all small deletion/insertion events. Mutation rates were also independently estimated from the sequence divergence observed in randomly chosen sequences from the human and chimpanzee X and Y chromosomes. These estimates were highly compatible with those obtained from hemophilia B and showed higher mutation rates in the male, but they showed no evidence for a significant excess of transitions at CpG sites in the spectrum of Y-sequence divergence relative to that of X-chromosome divergence. Our data suggest an overall mutation rate of 2.14x10-8 per base per generation, or 128 mutations per human zygote. Since the effective target for hemophilia B mutations is only 1.05% of the factor IX gene, the rate of detrimental mutations, per human zygote, suggested by the hemophilia data is approximately 1.3. (+info)Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene. (6/332)
We examined the molecular basis of factor IX deficiency in 53 unrelated Polish patients with hemophilia B. Heteroduplex analysis and direct sequencing of polymerase chain reaction (PCR) products were applied to identify the gene defect. Forty-three different point mutations were detected in the factor IX gene of 47 patients. There were 29 missense mutations, 9 nonsense mutations, 4 splice site mutations and 1 point mutation in the promoter region. Twelve mutations were novel. The results of this study emphasize a very high degree of heterogeneity of hemophilia B. (+info)Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. (7/332)
BACKGROUND AND OBJECTIVE: We describe our three year experience in genetic counseling at the Castelfranco Veneto Hemophilia Center, Italy. DESIGN AND METHODS: A total of 258 individuals were involved in the study of 142 females. These formed 40 families with hemophilia A and 6 families with hemophilia B. Following pedigree analysis, the FVIII inversion was first examined in severe hemophilia A patients by polymerase chain reaction (PCR) analysis. DNA polymorphisms were used to track the affected gene through the remaining families. In uninformative cases, we initiated analysis of the FVIII or FIX gene coding region by conformation sensitive gel electrophoresis and DNA sequencing to identify the mutation responsible for the disease. RESULTS: The FVIII gene inversion was present in 16 of the 32 patients (50%) affected by severe hemophilia A and was informative for 44 females. For hemophilia A, 45 cases (55%) were informative by linkage analysis, however 37 (45%) were uninformative because of lack of key individuals, homozygosity, or sporadic disease. Information from extragenic linked polymorphisms alone was present in 9 cases (6%). For hemophilia B, linkage analysis was informative in only 50% of females (8 out of 16). To date, nine mutations have been identified in patients with hemophilia A and three in patients with hemophilia B. Six novel missense mutations in hemophilia A are discussed briefly. INTERPRETATION AND CONCLUSIONS: Using this approach we are now able to offer accurate genetic analysis to virtually all families with hemophilia. (+info)Simple screening tests for the diagnosis of isolated clotting factor defects. With special reference to 'contact factor' defects. (8/332)
Reagents may be prepared from normal plasma and used with the prothrombin time and partial thromboplastin time tests to distinguish isolated defects of factors I, II, VII, VIII, IX, X, XI, or XII. (+info)Hemophilia B is a genetic disorder that affects the body's ability to control blood clotting, also known as coagulation. This condition is caused by a deficiency or dysfunction in Factor IX, one of the proteins essential for normal blood clotting. As a result, people with Hemophilia B experience prolonged bleeding and bruising after injuries, surgeries, or spontaneously, particularly in joints and muscles.
There are different degrees of severity, depending on how much Factor IX is missing or not functioning properly. Mild cases may only become apparent after significant trauma, surgery, or tooth extraction, while severe cases can lead to spontaneous bleeding into joints and muscles, causing pain, swelling, and potential long-term damage. Hemophilia B primarily affects males, as it is an X-linked recessive disorder, but females can be carriers of the condition and may experience mild symptoms.
Hemophilia A is a genetic bleeding disorder caused by a deficiency in clotting factor VIII. This results in impaired blood clotting and prolonged bleeding, particularly after injuries or surgeries. Symptoms can range from mild to severe, with the most severe form resulting in spontaneous bleeding into joints and muscles, leading to pain, swelling, and potential joint damage over time. Hemophilia A primarily affects males, as it is an X-linked recessive disorder, and is usually inherited from a carrier mother. However, about one third of cases result from a spontaneous mutation in the gene for factor VIII. Treatment typically involves replacement therapy with infusions of factor VIII concentrates to prevent or control bleeding episodes.
Factor IX is also known as Christmas factor, which is a protein that plays a crucial role in the coagulation cascade, a series of chemical reactions that leads to the formation of a blood clot. It is one of the essential components required for the proper functioning of the body's natural blood-clotting mechanism.
Factor IX is synthesized in the liver and activated when it comes into contact with an injured blood vessel. Once activated, it collaborates with other factors to convert factor X to its active form, which then converts prothrombin to thrombin. Thrombin is responsible for converting fibrinogen to fibrin, forming a stable fibrin clot that helps stop bleeding and promote healing.
Deficiencies in Factor IX can lead to hemophilia B, a genetic disorder characterized by prolonged bleeding and an increased risk of spontaneous bleeding. Hemophilia B is inherited in an X-linked recessive pattern, meaning it primarily affects males, while females serve as carriers of the disease. Treatment for hemophilia B typically involves replacing the missing or deficient Factor IX through infusions to prevent or manage bleeding episodes.
Factor VIII is a protein in the blood that is essential for normal blood clotting. It is also known as antihemophilic factor (AHF). Deficiency or dysfunction of this protein results in hemophilia A, a genetic disorder characterized by prolonged bleeding and easy bruising. Factor VIII works together with other proteins to help form a clot and stop bleeding at the site of an injury. It acts as a cofactor for another clotting factor, IX, in the so-called intrinsic pathway of blood coagulation. Intravenous infusions of Factor VIII concentrate are used to treat and prevent bleeding episodes in people with hemophilia A.
Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.
Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.
Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.
Genetic therapy, also known as gene therapy, is a medical intervention that involves the use of genetic material, such as DNA or RNA, to treat or prevent diseases. It works by introducing functional genes into cells to replace missing or faulty ones caused by genetic disorders or mutations. The introduced gene is incorporated into the recipient's genome, allowing for the production of a therapeutic protein that can help manage the disease symptoms or even cure the condition.
There are several approaches to genetic therapy, including:
1. Replacing a faulty gene with a healthy one
2. Inactivating or "silencing" a dysfunctional gene causing a disease
3. Introducing a new gene into the body to help fight off a disease, such as cancer
Genetic therapy holds great promise for treating various genetic disorders, including cystic fibrosis, muscular dystrophy, hemophilia, and certain types of cancer. However, it is still an evolving field with many challenges, such as efficient gene delivery, potential immune responses, and ensuring the safety and long-term effectiveness of the therapy.
Blood coagulation factor inhibitors are substances that interfere with the normal blood clotting process by inhibiting the function of coagulation factors. These inhibitors can be either naturally occurring or artificially produced.
Naturally occurring coagulation factor inhibitors include antithrombin, protein C, and tissue factor pathway inhibitor (TFPI). These inhibitors play a crucial role in regulating the coagulation cascade and preventing excessive clot formation.
Artificially produced coagulation factor inhibitors are used as therapeutic agents to treat thrombotic disorders. Examples include direct oral anticoagulants (DOACs) such as apixaban, rivaroxaban, and dabigatran, which selectively inhibit specific coagulation factors (factor Xa or thrombin).
Additionally, there are also antibodies that can act as coagulation factor inhibitors. These include autoantibodies that develop in some individuals and cause bleeding disorders such as acquired hemophilia A or antiphospholipid syndrome.
A dependovirus, also known as a dependent adenovirus or satellite adenovirus, is a type of virus that requires the presence of another virus, specifically an adenovirus, to replicate. Dependoviruses are small, non-enveloped viruses with a double-stranded DNA genome. They cannot complete their replication cycle without the help of an adenovirus, which provides necessary functions for the dependovirus to replicate.
Dependoviruses are clinically significant because they can cause disease in humans, particularly in individuals with weakened immune systems. In some cases, dependoviruses may also affect the severity and outcome of adenovirus infections. However, it is important to note that not all adenovirus infections are associated with dependovirus co-infections.
Hemarthrosis is a medical term that refers to the presence of blood in a joint space. This condition usually occurs as a result of trauma or injury that causes bleeding into the joint, such as a fracture or dislocation. Certain medical conditions like hemophilia and other bleeding disorders can also make a person more prone to hemarthrosis.
The accumulation of blood in the joint space can cause pain, swelling, warmth, and stiffness, making it difficult for the individual to move the affected joint. In some cases, hemarthrosis may require medical intervention, such as draining the excess blood from the joint or administering clotting factors to help stop the bleeding. If left untreated, hemarthrosis can lead to complications like joint damage and chronic pain.
Blood coagulation disorders, inherited, also known as coagulopathies, are genetic conditions that affect the body's ability to form blood clots in response to injury or damage to blood vessels. These disorders can lead to excessive bleeding or hemorrhage, and in some cases, abnormal clotting.
There are several types of inherited blood coagulation disorders, including:
1. Hemophilia A and B: These are X-linked recessive disorders that affect the production of factors VIII and IX, respectively, which are essential for normal blood clotting. People with hemophilia may experience prolonged bleeding after injury or surgery, and spontaneous bleeding into joints and muscles.
2. Von Willebrand disease: This is the most common inherited coagulation disorder, affecting both men and women. It results from a deficiency or abnormality of von Willebrand factor, a protein that helps platelets stick to damaged blood vessels and assists in the activation of factor VIII. People with von Willebrand disease may experience excessive bleeding after injury, surgery, or dental work.
3. Factor XI deficiency: This is an autosomal recessive disorder that affects the production of factor XI, a protein involved in the intrinsic pathway of blood coagulation. People with factor XI deficiency may have a mild to moderate bleeding tendency, particularly after surgery or trauma.
4. Rare coagulation factor deficiencies: There are several other rare inherited coagulation disorders that affect the production of other clotting factors, such as factors II, V, VII, X, and XIII. These conditions can lead to a range of bleeding symptoms, from mild to severe.
Inherited blood coagulation disorders are usually diagnosed through a combination of medical history, physical examination, and laboratory tests that measure the levels and function of clotting factors in the blood. Treatment may include replacement therapy with purified clotting factor concentrates, medications to control bleeding, and management of bleeding symptoms as they arise.
Heterophile antibodies are a type of antibody that can react with antigens from more than one source, rather than being specific to a single antigen. They are produced in response to an initial infection or immunization, but can also cross-react with antigens from unrelated organisms or substances. A common example of heterophile antibodies are those that are produced in response to Epstein-Barr virus (EBV) infection, which can cause infectious mononucleosis. These antibodies, known as Paul-Bunnell antibodies, can agglutinate (clump together) sheep or horse red blood cells, which is the basis for a diagnostic test for EBV infection called the Monospot test. However, it's important to note that not all cases of infectious mononucleosis are caused by EBV, and other infections or conditions can also cause the production of heterophile antibodies, leading to false-positive results.
Partial Thromboplastin Time (PTT) is a medical laboratory test that measures the time it takes for blood to clot. It's more specifically a measure of the intrinsic and common pathways of the coagulation cascade, which are the series of chemical reactions that lead to the formation of a clot.
The test involves adding a partial thromboplastin reagent (an activator of the intrinsic pathway) and calcium to plasma, and then measuring the time it takes for a fibrin clot to form. This is compared to a control sample, and the ratio of the two times is calculated.
The PTT test is often used to help diagnose bleeding disorders or abnormal blood clotting, such as hemophilia or disseminated intravascular coagulation (DIC). It can also be used to monitor the effectiveness of anticoagulant therapy, such as heparin. Prolonged PTT results may indicate a bleeding disorder or an increased risk of bleeding, while shortened PTT results may indicate a hypercoagulable state and an increased risk of thrombosis.
A genetic vector is a vehicle, often a plasmid or a virus, that is used to introduce foreign DNA into a host cell as part of genetic engineering or gene therapy techniques. The vector contains the desired gene or genes, along with regulatory elements such as promoters and enhancers, which are needed for the expression of the gene in the target cells.
The choice of vector depends on several factors, including the size of the DNA to be inserted, the type of cell to be targeted, and the efficiency of uptake and expression required. Commonly used vectors include plasmids, adenoviruses, retroviruses, and lentiviruses.
Plasmids are small circular DNA molecules that can replicate independently in bacteria. They are often used as cloning vectors to amplify and manipulate DNA fragments. Adenoviruses are double-stranded DNA viruses that infect a wide range of host cells, including human cells. They are commonly used as gene therapy vectors because they can efficiently transfer genes into both dividing and non-dividing cells.
Retroviruses and lentiviruses are RNA viruses that integrate their genetic material into the host cell's genome. This allows for stable expression of the transgene over time. Lentiviruses, a subclass of retroviruses, have the advantage of being able to infect non-dividing cells, making them useful for gene therapy applications in post-mitotic tissues such as neurons and muscle cells.
Overall, genetic vectors play a crucial role in modern molecular biology and medicine, enabling researchers to study gene function, develop new therapies, and modify organisms for various purposes.
Factor VIIa is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor VIIa is the activated form of factor VII, which is normally activated by tissue factor (TF) when there is damage to the blood vessels. Together, TF and Factor VIIa convert Factor X to its active form, Factor Xa, which then converts prothrombin to thrombin, leading to the formation of a fibrin clot.
In summary, Factor VIIa is an important protein in the coagulation cascade that helps to initiate the formation of a blood clot in response to injury.
Blood coagulation, also known as blood clotting, is a complex process that occurs in the body to prevent excessive bleeding when a blood vessel is damaged. This process involves several different proteins and chemical reactions that ultimately lead to the formation of a clot.
The coagulation cascade is initiated when blood comes into contact with tissue factor, which is exposed after damage to the blood vessel wall. This triggers a series of enzymatic reactions that activate clotting factors, leading to the formation of a fibrin clot. Fibrin is a protein that forms a mesh-like structure that traps platelets and red blood cells to form a stable clot.
Once the bleeding has stopped, the coagulation process is regulated and inhibited to prevent excessive clotting. The fibrinolytic system degrades the clot over time, allowing for the restoration of normal blood flow.
Abnormalities in the blood coagulation process can lead to bleeding disorders or thrombotic disorders such as deep vein thrombosis and pulmonary embolism.
Hemorrhage is defined in the medical context as an excessive loss of blood from the circulatory system, which can occur due to various reasons such as injury, surgery, or underlying health conditions that affect blood clotting or the integrity of blood vessels. The bleeding may be internal, external, visible, or concealed, and it can vary in severity from minor to life-threatening, depending on the location and extent of the bleeding. Hemorrhage is a serious medical emergency that requires immediate attention and treatment to prevent further blood loss, organ damage, and potential death.
Blood coagulation tests, also known as coagulation studies or clotting tests, are a series of medical tests used to evaluate the blood's ability to clot. These tests measure the functioning of various clotting factors and regulatory proteins involved in the coagulation cascade, which is a complex process that leads to the formation of a blood clot to prevent excessive bleeding.
The most commonly performed coagulation tests include:
1. Prothrombin Time (PT): Measures the time it takes for a sample of plasma to clot after the addition of calcium and tissue factor, which activates the extrinsic pathway of coagulation. The PT is reported in seconds and can be converted to an International Normalized Ratio (INR) to monitor anticoagulant therapy.
2. Activated Partial Thromboplastin Time (aPTT): Measures the time it takes for a sample of plasma to clot after the addition of calcium, phospholipid, and a contact activator, which activates the intrinsic pathway of coagulation. The aPTT is reported in seconds and is used to monitor heparin therapy.
3. Thrombin Time (TT): Measures the time it takes for a sample of plasma to clot after the addition of thrombin, which directly converts fibrinogen to fibrin. The TT is reported in seconds and can be used to detect the presence of fibrin degradation products or abnormalities in fibrinogen function.
4. Fibrinogen Level: Measures the amount of fibrinogen, a protein involved in clot formation, present in the blood. The level is reported in grams per liter (g/L) and can be used to assess bleeding risk or the effectiveness of fibrinogen replacement therapy.
5. D-dimer Level: Measures the amount of D-dimer, a protein fragment produced during the breakdown of a blood clot, present in the blood. The level is reported in micrograms per milliliter (µg/mL) and can be used to diagnose or exclude venous thromboembolism (VTE), such as deep vein thrombosis (DVT) or pulmonary embolism (PE).
These tests are important for the diagnosis, management, and monitoring of various bleeding and clotting disorders. They can help identify the underlying cause of abnormal bleeding or clotting, guide appropriate treatment decisions, and monitor the effectiveness of therapy. It is essential to interpret these test results in conjunction with a patient's clinical presentation and medical history.
I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.
If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.
Inbreeding in animals refers to the mating of closely related individuals, such as siblings or offspring of siblings, over multiple generations. An inbred strain is a population of animals produced by this repeated mating of close relatives, which results in a high degree of genetic similarity among members of the strain.
Inbreeding can lead to an increase in homozygosity, where identical alleles are present at corresponding loci on both chromosomes. This can result in the expression of recessive traits, some of which may be deleterious or even lethal. However, inbred strains also have advantages, such as reduced genetic variability, which makes them useful for scientific research.
Inbred strains are commonly used in biomedical research, including genetics, immunology, and behavioral studies. They provide a consistent and controlled genetic background, allowing researchers to study the effects of specific genes or environmental factors with greater precision. Additionally, inbred strains can be crossed with other strains to create hybrid populations, which can be used to map quantitative trait loci (QTL) and identify genes associated with complex traits.
Factor IXa is a protein that plays a crucial role in the coagulation cascade, which is a series of biochemical reactions involved in blood clotting. It is an activated form of Factor IX, which is one of the coagulation factors that help convert prothrombin to thrombin, leading to the formation of a fibrin clot and stopping bleeding at the site of injury.
Factor IXa works by activating Factor X in the presence of calcium ions, phospholipids, and Factor VIIIa, which is another activated coagulation factor. This complex is called the tenase complex. The activation of Factor X leads to the formation of thrombin, which then converts fibrinogen to fibrin, forming a stable clot.
Deficiencies or dysfunctions in Factor IXa can lead to bleeding disorders such as hemophilia B, also known as Christmas disease, which is characterized by prolonged bleeding times and spontaneous bleeding episodes.
Hemostasis is the physiological process that occurs to stop bleeding (bleeding control) when a blood vessel is damaged. This involves the interaction of platelets, vasoconstriction, and blood clotting factors leading to the formation of a clot. The ultimate goal of hemostasis is to maintain the integrity of the vascular system while preventing excessive blood loss.
Coagulants are substances that promote the process of coagulation or clotting. They are often used in medical settings to help control bleeding and promote healing. Coagulants work by encouraging the formation of a clot, which helps to stop the flow of blood from a wound or cut.
There are several different types of coagulants that may be used in medical treatments. Some coagulants are naturally occurring substances, such as vitamin K, which is essential for the production of certain clotting factors in the body. Other coagulants may be synthetic or semi-synthetic compounds, such as recombinant activated factor VII (rFVIIa), which is used to treat bleeding disorders and prevent excessive bleeding during surgery.
Coagulants are often administered through injection or infusion, but they can also be applied topically to wounds or cuts. In some cases, coagulants may be used in combination with other treatments, such as compression or cauterization, to help control bleeding and promote healing.
It is important to note that while coagulants can be helpful in controlling bleeding and promoting healing, they can also increase the risk of blood clots and other complications. As a result, they should only be used under the guidance and supervision of a qualified healthcare professional.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Factor VII, also known as proconvertin, is a protein involved in the coagulation cascade, which is a series of chemical reactions that leads to the formation of a blood clot. Factor VII is synthesized in the liver and is activated when it comes into contact with tissue factor, which is exposed when blood vessels are damaged. Activated Factor VII then activates Factor X, leading to the formation of thrombin and ultimately a fibrin clot.
Inherited deficiencies or dysfunctions of Factor VII can lead to an increased risk of bleeding, while elevated levels of Factor VII have been associated with an increased risk of thrombosis (blood clots).
Gene transfer techniques, also known as gene therapy, refer to medical procedures where genetic material is introduced into an individual's cells or tissues to treat or prevent diseases. This can be achieved through various methods:
1. **Viral Vectors**: The most common method uses modified viruses, such as adenoviruses, retroviruses, or lentiviruses, to carry the therapeutic gene into the target cells. The virus infects the cell and inserts the new gene into the cell's DNA.
2. **Non-Viral Vectors**: These include methods like electroporation (using electric fields to create pores in the cell membrane), gene guns (shooting gold particles coated with DNA into cells), or liposomes (tiny fatty bubbles that can enclose DNA).
3. **Direct Injection**: In some cases, the therapeutic gene can be directly injected into a specific tissue or organ.
The goal of gene transfer techniques is to supplement or replace a faulty gene with a healthy one, thereby correcting the genetic disorder. However, these techniques are still largely experimental and have their own set of challenges, including potential immune responses, issues with accurate targeting, and risks of mutations or cancer development.
Factor VIIIa is a protein that plays a crucial role in the coagulation cascade, which is the series of biochemical reactions involved in blood clotting. Specifically, Factor VIIIa is an activated form of Factor VIII, which is one of the essential clotting factors required for normal hemostasis (the process that stops bleeding).
Factor VIIIa functions as a cofactor for another protein called Factor IXa, and together they form the "tenase complex." This complex activates Factor X to Factor Xa, which ultimately leads to the formation of a fibrin clot.
Deficiencies or dysfunctions in Factor VIII or Factor VIIIa can result in bleeding disorders such as hemophilia A, a genetic condition characterized by prolonged bleeding and spontaneous hemorrhages.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Antibodies are proteins produced by the immune system in response to the presence of a foreign substance, such as a bacterium or virus. They are capable of identifying and binding to specific antigens (foreign substances) on the surface of these invaders, marking them for destruction by other immune cells. Antibodies are also known as immunoglobulins and come in several different types, including IgA, IgD, IgE, IgG, and IgM, each with a unique function in the immune response. They are composed of four polypeptide chains, two heavy chains and two light chains, that are held together by disulfide bonds. The variable regions of the heavy and light chains form the antigen-binding site, which is specific to a particular antigen.
Hemostatics are substances or agents that promote bleeding cessation or prevent the spread of bleeding. They can act in various ways, such as by stimulating the body's natural clotting mechanisms, constricting blood vessels to reduce blood flow, or forming a physical barrier to block the bleeding site.
Hemostatics are often used in medical settings to manage wounds, injuries, and surgical procedures. They can be applied directly to the wound as a powder, paste, or gauze, or they can be administered systemically through intravenous injection. Examples of hemostatic agents include fibrin sealants, collagen-based products, thrombin, and oxidized regenerated cellulose.
It's important to note that while hemostatics can be effective in controlling bleeding, they should be used with caution and only under the guidance of a healthcare professional. Inappropriate use or overuse of hemostatic agents can lead to complications such as excessive clotting, thrombosis, or tissue damage.
Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.
Von Willebrand disease (vWD) is a genetic bleeding disorder caused by deficiency or dysfunction of the von Willebrand factor (VWF), a protein involved in blood clotting. The VWF plays a crucial role in the formation of a stable platelet plug during the process of hemostasis, which helps to stop bleeding.
There are three main types of vWD:
1. Type 1: This is the most common form, characterized by a partial quantitative deficiency of functional VWF. Bleeding symptoms are usually mild.
2. Type 2: In this type, there is a qualitative defect in the VWF protein leading to various subtypes (2A, 2B, 2M, and 2N) with different bleeding patterns. Symptoms can range from mild to severe.
3. Type 3: This is the most severe form of vWD, characterized by a near or complete absence of functional VWF and Factor VIII. Affected individuals have a high risk of spontaneous and severe bleeding episodes.
The clinical manifestations of vWD include easy bruising, prolonged nosebleeds (epistaxis), heavy menstrual periods in women, and excessive bleeding after dental procedures, surgeries, or trauma. The diagnosis is made based on laboratory tests that assess VWF antigen levels, VWF activity, and Factor VIII coagulant activity. Treatment options include desmopressin (DDAVP) to stimulate the release of VWF from endothelial cells, recombinant VWF, or plasma-derived VWF concentrates, and antifibrinolytic agents like tranexamic acid to reduce bleeding.
Porphyric hemophilia
Canadian Hemophilia Society
World Federation of Hemophilia
Haemophilia
Haemophilia A
Haemophilia C
Haemophilia B
Acquired haemophilia
Irish Haemophilia Society
HIV Haemophilia Litigation
Contaminated haemophilia blood products
Haemophilia in European royalty
United Kingdom Haemophilia Centre Doctors' Organisation
Royal Commission of Inquiry on the Blood System in Canada
Sex chromosome
National Bleeding Disorders Foundation
Renn Hawkey
Contaminated blood scandal in the United Kingdom
Molly Hawkey
Legitimacy of Queen Victoria
Patricia Flint Borns
Victor A. McKusick
List of OMIM disorder codes
Peter Marks (physician)
Seven Summits
X-linked recessive inheritance
Princess Victoria of Saxe-Coburg-Saalfeld
The Ryan White Story
Ryan White
Knee pain
Learn about Hemophilia | CDC
Porphyric hemophilia - Wikipedia
Hemophilia | MedlinePlus
Keyword: Hemophilia
Hemophilia A
Learn about Hemophilia | CDC
Haemophilia A - Wikipedia
Genetic: Hemophilia | Encyclopedia.com
HEMOPHILIA Definition & Usage Examples | Dictionary.com
Hemophilia [IMAGE] | EurekAlert! Science News Releases
Acquired hemophilia
About Hemophilia
Acquired Hemophilia: Practice Essentials, Background, Pathophysiology
Hemophilia: Handling Bleeds (for Parents) - Nemours KidsHealth
Feiba Vh Medication: Hemophilia Treatment Side Effects & Dosage
Inherited Hemophilia: Testing, Treatment, and Outlook
Hemophilia Treatment and Therapies - Bright Hub
Hemophilia In Thrombin - 195 Words | Bartleby
Hemophilia and Thrombosis Treatment Center - Pediatric
On-Demand: Gene Therapies In Hemophilia
How BioMarin May Revolutionize the Hemophilia Treatment Market | Nasdaq
Hemophilia and Thrombophilia Care | RUSH
Hemophilia - Medical Dictionary / Glossary | Medindia
AIDS in Persons with Hemophilia
hemophilia | Blogs | CDC
Haemophilia Archives - Vanguard News
Hemophilia Resources | Rady Children's Hospital
Famous People Affected by Hemophilia
A Vioxx comeback? A startup eyes the drug for hemophilia - CBS News
National Hemophilia Foundation9
- According to the National Hemophilia Foundation there are two main types of hemophilia: hemophilia A, (low levels of clotting factor VIII) and hemophilia B (low levels of clotting factor IX). (brighthub.com)
- National Hemophilia Foundation www. (brighthub.com)
- According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. (bartleby.com)
- The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d. (bartleby.com)
- Borstein has spoken publicly about her family's experience with hemophilia and has participated in awareness campaigns of the National Hemophilia Foundation . (everydayhealth.com)
- Registration link for National Hemophilia Foundation town hall on 3/20/20 at 3 p.m. (rchsd.org)
- The National Hemophilia Foundation conducts research, provides education, and engages in advocacy work surrounding inheritable blood disorders. (panfoundation.org)
- He has served in numerous capacities in the hemophilia advocacy community, including as a coordinator for the Men's Advocacy Network of the National Hemophilia Foundation, as a board member and president of the Hemophilia Federation of America, as a board member and president of the Kentucky Hemophilia Foundation, and as a board member and president of the Committee of Ten Thousand. (hemophiliavillage.com)
- The National Hemophilia Foundation (now known as National Bleeding Disorders Foundation) Chapter of Excellence Award is given to chapters that demonstrate excellence in achievement of standards and best practices evaluated through a rigorous chapter review process. (hog.org)
Types of hemophilia6
- What are the types of hemophilia? (medlineplus.gov)
- There are several different types of hemophilia. (medlineplus.gov)
- Most types of hemophilia are inherited. (medlineplus.gov)
- The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). (genome.gov)
- The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. (genome.gov)
- Different types of hemophilia are classified by different deficient clotting factors in the blood. (bartleby.com)
Family history of hemophilia4
- People who have a family history of hemophilia are also at higher risk. (medlineplus.gov)
- If you have a family history of hemophilia and are pregnant, tests can tell if your baby has the disease. (webmd.com)
- Your doctor may suggest genetic testing if you or your partner have a family history of hemophilia. (healthline.com)
- We have no family history of hemophilia - we didn't know what hemophilia even was. (childrensmn.org)
20231
- FRIDAY, June 30, 2023 (HealthDay News) -- The U.S. Food and Drug Administration on Thursday approved a costly single-dose gene therapy for patients with severe hemophilia A. The treatment, Roctavian (valoctocogene roxaparvovec), will cost $2.9 million for a single infusion, the Associated Press reported. (healthday.com)
Bleeds5
- Patients with acquired hemophilia may have no bleeding, mild bleeds, or life-threatening bleeds. (medscape.com)
- Hemophilia A patients are at risk of spontaneous bleeds because they lack clotting factor VIII, a protein necessary for coagulation. (nasdaq.com)
- Levels between 5 IU/dL and 40 IU/dL are characterized as "mild" hemophilia that's unlikely to result in spontaneous bleeds. (nasdaq.com)
- The risks of a major bleed, or of cumulative damage from repeated bleeds, are too high to expose hemophilia patients to potentially ineffective treatments, or to delay their access to the therapies prescribed by their doctors. (hfmich.org)
- Doctors suspect hemophilia in a child (especially a boy) who bleeds a lot and bruises easily, especially if the child has family members with hemophilia. (msdmanuals.com)
Clot5
- Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. (cdc.gov)
- If you have hemophilia, your blood does not clot as it typically would. (healthline.com)
- People with hemophilia may bleed longer because blood does not clot as fast as it should. (brighthub.com)
- Hemophilia is a genetic disease where the blood cannot clot because one of the clotting factors is missing. (exploringnature.org)
- Hemophilia is a disorder in which the blood doesn't clot normally. (panfoundation.org)
Willebrand7
- I n addition to purchasing travel insurance , booking accommodations, and getting up-to-date on immunizations, people with a bleeding disorder, such as hemophilia or Von Willebrand disease, need to take extra precautions before setting out on a travel excursion. (matadornetwork.com)
- WFH estimates 70% of people with hemophilia remain undiagnosed, with even lower rates for von Willebrand disease and even greater delays in diagnosis for women and girls. (who.int)
- The ability to provide high, sustained factor VIII activity in patients with hemophilia A has been constrained by the von Willebrand factor-imposed half-life ceiling. (medpagetoday.com)
- While normalizing factor VIII levels helps protect patients with hemophilia A from spontaneous and traumatic bleeding, thus preserving joint health, von Drygalski and colleagues pointed out that the interaction between factor VIII and endogenous von Willebrand factor limits the half-life of current factor VIII replacement products to 8 to 19 hours. (medpagetoday.com)
- The Hemophilia Foundation of Michigan strives to improve the quality of life for all people affected by hemophilia, von Willebrand disease, other coagulation disorders, and related complications. (hfmich.org)
- The Hemophilia, von Willebrand Disease & Platelet Disorders Handbook is a comprehensive guide to living with a bleeding disorder. (hog.org)
- Hemophilia and the von Willebrand diseases are the most common of all hereditary blood coagulation disorders and must be detected before conducting any dental treatment. (bvsalud.org)
Type of hemophilia4
- These blood tests would show the type of hemophilia and the severity. (medlineplus.gov)
- A rare type of hemophilia A is acquired hemophilia. (webmd.com)
- Factor VIII is for hemophilia A. Factor IX is for hemophilia B, another type of hemophilia. (webmd.com)
- Hemophilia B is the second most common type of hemophilia,and results from an insufficient amount of clotting factor IX, a naturallyoccurring protein found in blood that helps to control bleeding. (drugdiscoverynews.com)
Gene therapy for severe hemophilia1
- The ideal goal for a gene therapy for severe hemophilia would be maintaining levels above 40 IU/dL. (nasdaq.com)
Disorders18
- Hemophilia is the name of a group of hereditary blood disorders characterized by deficiencies in the blood's ability to form clots. (encyclopedia.com)
- Acquired hemophilia is a serious coagulopathy usually affecting the elderly, persons with autoimmune disorders and, infrequently, women in the immediate postpartum period. (nih.gov)
- [ 1 ] Acquired hemophilia can arise in the context of a variety of disorders, including autoimmune diseases and malignancies, or be due to medications, but approximately half of cases are idiopathic. (medscape.com)
- The Mass General Hemophilia and Thrombosis Center (HTC) is a federally supported and fully accredited center that offers comprehensive care for children and adults with bleeding and clotting disorders. (massgeneral.org)
- The Hemophilia and Thrombosis Treatment Center is an integral part of Massachusetts General Hospital, providing innovative, high-quality medical care for children and adults with bleeding disorders. (massgeneral.org)
- Research has found that people with bleeding disorders who go to hemophilia treatment centers like the one at Rush are 40% less likely to be admitted to the hospital for bleeding complications. (rush.edu)
- Because Rush has one of the busiest hemophilia and thrombophilia centers in Illinois, our hematologists have experience with all types of bleeding and clotting disorders. (rush.edu)
- There are over 140 federally-funded Hemophilia Treatment Centers (HTC) located across the United States of America that provide specialized care for individuals with bleeding disorders. (matadornetwork.com)
- What Hemophilia is : a group of hereditary genetic disorders that impair the body's ability to control blood clotting, which is used to stop bleeding when a blood vessel is broken. (rarediseaseday.org)
- Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females. (rarediseaseday.org)
- WFH urges governments to integrate hemophilia and other bleeding disorders into national NCD, UHC and PHC national plans and calls for a coordinated global framework for alleviating health inequities faced by our community. (who.int)
- However, the age limitation is waived for patients with certain blood disorders (hemophilia and other bleeding disorders), Sickle Cell Disease, and Cystic Fibrosis. (hfmich.org)
- People living with hemophilia and other bleeding disorders rely on high cost medications in order to live healthy and productive lives. (hfmich.org)
- also spelled hemophilia in North America, from the Greek haima αἷμα 'blood' and philia φιλος 'love') is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. (medicalxpress.com)
- The Haemophilia Comprehensive Care Centre in Nottingham offers a comprehensive range of clinical and laboratory services for people with haemophilia and other bleeding disorders and their families. (nuh.nhs.uk)
- Funding for research into bleeding disorders is a high priority for Hemophilia of Georgia. (hog.org)
- Camp Wannaklot is a summer camp that provides children who have hemophilia or other inherited bleeding disorders the opportunity to enjoy a traditional camp experience. (hog.org)
- Hemophilia of Georgia exists so that people affected by bleeding disorders live as normally and productively as possible. (hog.org)
Centers for Diseas1
- According to the CDC (Centers for Disease Control and Prevention), hemophilia A affects roughly 10 in every 100,000 persons. (differencebetween.net)
Deficiency10
- Haemophilia A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. (wikipedia.org)
- About 5-10% of people with haemophilia A are affected because they make a dysfunctional version of the factor VIII protein, while the remainder are affected because they produce factor VIII in insufficient amounts (quantitative deficiency). (wikipedia.org)
- By 1944, a doctor in Argentina found that there are two distinct forms of hemophilia, each caused by a deficiency of a specific coagulation factor. (encyclopedia.com)
- Hemophilia A , also called factor VIII deficiency, and hemophilia B , also called factor IX deficiency, are inherited on the X chromosome in an autosomal recessive pattern . (healthline.com)
- With the exception of one 31-year-old factor V-deficient individual with Kaposi's sarcoma (and without risk factors for AIDS other than his hemophilia), each patient had at least one opportunistic infection suggestive of an underlying cellular immune deficiency. (cdc.gov)
- Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000-10,000 male births. (rarediseaseday.org)
- 2] Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000-34,000 male births. (rarediseaseday.org)
- Although it is not impossible for a female to have haemophilia, it is unusual: a female with haemophilia A or B would have to be the daughter of both a male haemophiliac and a female carrier, while the non-sex-linked haemophilia C due to coagulant factor XI deficiency, which can affect either sex, is more common in Jews of Ashkenazi (east European) descent[3] but rare in other population groups. (rarediseaseday.org)
- It has three types - Hemophilia A, Hemophilia B and Hemophilia C. Hemophilia A (classical hemophilia) is a factor VIII deficiency, hemophilia B (Christmas disease) is a factor IX deficiency. (differencebetween.net)
- People with hemophilia C do not experience bleeding problems that impair their joints or muscles, in contrast to those with hemophilia A or B. Hemophilia A (classical hemophilia) is a factor VIII deficiency, hemophilia B (Christmas disease) is a factor IX deficiency, and hemophilia C (Rosenthal syndrome) is a factor XI deficiency. (differencebetween.net)
Diagnosis10
- Eradication of the inhibitor with immunosuppression should be initiated as soon as the diagnosis of acquired hemophilia is established. (medscape.com)
- Diagnosis of acquired hemophilia can be difficult, both because the condition is rare and because the patient does not have the usual personal or family history of bleeding episodes, such as is seen in congenital hemophilia. (medscape.com)
- Here's how hemophilia is inherited, who is more likely to have the disorder, and what tests may help with diagnosis. (healthline.com)
- Blood tests are the primary means of diagnosis if a person is experiencing symptoms of hemophilia. (healthline.com)
- While many U.S. hemophilia-associated AIDS patients have received blood products other than factor concentrates in the 5 years preceding their AIDS diagnosis, the occurrence of nine cases with no known risk factor or exposure other than the use of factor VIII preparations implicates these products as potential vehicles of AIDS transmission. (cdc.gov)
- Mother, father and son discuss their journey in Nate's hemophilia diagnosis at birth. (childrensmn.org)
- Carl's older brother has also received a diagnosis of severe hemophilia B. Carl's daughter and two of his granddaughters live with hemophilia. (hemophiliavillage.com)
- Baxter has an ongoing presence in the Chinese hemophiliacommunity, having worked with the Ministry of Health in 2010 to set up a"Hemophilia Disease Management System," the first nationwide patientregistration and management system in China that also integrated diagnosis andtreatment information. (drugdiscoverynews.com)
- Overview of Hemophilia A and B including epidemiology, etiology, symptoms, diagnosis, pathology and treatment guidelines as well as an overview on the competitive landscape. (sbwire.com)
- These findings explain the patient's low FVIII:C level and led to the diagnosis of mild hemophilia A instead of VWD type 1. (lu.se)
Chromosome10
- They can get hemophilia if their one X chromosome has the gene change. (medlineplus.gov)
- People who are born female who have the gene change on one X chromosome are a "carrier" of hemophilia. (medlineplus.gov)
- Hemophilia is much more common in people who were born male since they can get it with a change to the gene on one X chromosome. (medlineplus.gov)
- The hemophilia A gene mutation happens on the X chromosome. (webmd.com)
- Both genes are located on the X chromosome , which means that females (who have two X chromosomes) can transmit the mutations that cause hemophilia, but males (who have only one X chromosome ) get the disease. (encyclopedia.com)
- Caused by changes in the X chromosome, hemophilia is an autosomal recessive genetic disorder. (healthline.com)
- This means that you must inherit one affected X chromosome to have the condition - in this case, hemophilia. (healthline.com)
- This means that if your X chromosome carries the genes for hemophilia, you will have the condition. (healthline.com)
- Only the X chromosome has the genes that may cause hemophilia. (brighthub.com)
- When a male has the abnormal gene on his X chromosome then he will be born with hemophilia. (brighthub.com)
Symptoms10
- Sometimes they may have some symptoms of hemophilia. (medlineplus.gov)
- What are the symptoms of hemophilia? (medlineplus.gov)
- The symptoms of hemophilia A depend on whether you have a mild, moderate, or severe case. (webmd.com)
- Haemophilia A's phenotype has a quite wide range of symptoms encompassing both internal and external bleeding episodes. (wikipedia.org)
- Individuals with more severe haemophilia tend to experience more intense and frequent bleeding, whereas those with mild haemophilia typically exhibit milder symptoms unless subjected to surgical procedures or significant trauma. (wikipedia.org)
- Those with moderate haemophilia may display variable symptoms, falling within the spectrum between severe and mild forms. (wikipedia.org)
- The symptoms depend on the severity of haemophilia. (wikipedia.org)
- Benzene causes cancer, thins the blood to cause symptoms resembling hemophilia , and damages fetuses exposed to it. (dictionary.com)
- [ 1 ] Moreover, the clinical signs and symptoms of acquired hemophilia differ from those of hereditary hemophilia. (medscape.com)
- Hemophilia symptoms can include bleeding more than usual from cuts or injuries. (stclair.org)
Coagulation11
- In individuals facing this complication, activated factor VII, a precursor to factor VIII in the coagulation cascade, can be administered as a treatment to address hemorrhage in individuals with hemophilia who have developed antibodies against replacement factor VIII. (wikipedia.org)
- In these individuals, activated factor VII, a precursor to factor VIII in the coagulation cascade, can be infused as a treatment for haemorrhage in individuals with haemophilia and antibodies against replacement factor VIII. (wikipedia.org)
- People with hemophilia, however, have low amounts of coagulation factors. (encyclopedia.com)
- The severity of hemophilia depends on the level of the coagulation factors. (encyclopedia.com)
- a person with severe hemophilia has less than 1 percent of normal coagulation factor activity. (encyclopedia.com)
- Coagulation is notably delayed in hemophilia and icterus and after administration of citric acid. (dictionary.com)
- Acquired hemophilia is a rare but potentially life-threatening bleeding disorder caused by the development of autoantibodies (inhibitors) directed against plasma coagulation factors, most frequently factor VIII (FVIII). (medscape.com)
- Haemophilia patients have lower clotting factor level of blood plasma or impaired activity of the coagulation factors needed for a normal clotting process. (rarediseaseday.org)
- Haemophilia lowers blood plasma clotting factor levels of the coagulation factors needed for a normal clotting process. (medicalxpress.com)
- In hemophilia A, there is insufficient coagulation factor VIII. (differencebetween.net)
- In hemophilia B, there is absence or insufficient coagulation factor IX. (differencebetween.net)
Called acquired hemophilia2
- Hemophilia that is not inherited is called acquired hemophilia. (medlineplus.gov)
- There is a very rare form of hemophilia called acquired hemophilia, which means that the disease is not genetic but develops later in life. (encyclopedia.com)
Bleeding disorder hemophilia2
- Now tiny Tremeau Pharmaceuticals is working to bring back it back, to treat severe joint pain caused by the bleeding disorder hemophilia. (cbsnews.com)
- Reuters) - The U.S. Food and Drug Administration rejected BioMarin Pharmaceutical Inc's gene therapy for bleeding disorder hemophilia A citing the need for longer-term data, the drugmaker said on Wednesday, potentially pushing any approval out to 2022. (equities.com)
Proteins6
- Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. (genome.gov)
- Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. (bartleby.com)
- Hemophilia is a bleeding disorder in which a person lacks proteins known as clotting factors. (everydayhealth.com)
- In the U.S., just over 20,000 people have hemophilia, an inherited disorder that leaves them without key proteins in the blood needed for clotting. (cbsnews.com)
- The main treatment for serious hemophilia involves receiving blood-clotting proteins through a tube in a vein. (stclair.org)
- In rare situations, hemophilia A can be acquired during life from an auto-antibody (an antibody developed by the immune system against person's own proteins) to factor VIII. (differencebetween.net)
Cause of hemophilia1
- It was not until the twentieth century that doctors were able to understand the cause of hemophilia. (encyclopedia.com)
Risk for hemophilia1
- Who is at risk for hemophilia? (medlineplus.gov)
Programme for haemophilia2
- Lawsuits have been filed in the courts mostly in developed countries, leading to the establishment of some kind of reimbursement programme for haemophilia patients who acquired viral infections. (who.int)
- Guidelines for the development of a national programme for haemophilia / prepared by Peter Jones. (who.int)
Chromosomes7
- If you have two X chromosomes, you may be hemophilia carriers. (healthline.com)
- You must inherit two affected X chromosomes to develop it, making hemophilia rarer in individuals with XX chromosomes. (healthline.com)
- Additionally, children with XX chromosomes have a 50% chance of inheriting two copies of affected genes and having hemophilia. (healthline.com)
- For a female to have hemophilia she would have to be born with both of her X chromosomes affected, which is very rare. (brighthub.com)
- Haemophilia is a genetic disorder that is passed through generations on the x chromosomes, that affects the clotting factor in the blood and makes patients more prone to spontaneous and injury-resulted bleeding which is usually internal. (bartleby.com)
- Because females have two X chromosomes and haemophilia is rare, the chance of a female having two defective copies of the gene is very remote, so females are almost exclusively asymptomatic carriers of the disorder. (rarediseaseday.org)
- Both X chromosomes are defective, or one is diseased and the other is absent or non-functional, in women who have hemophilia. (differencebetween.net)
Genes5
- Hemophilia A comes from your genes. (webmd.com)
- People who are born with hemophilia have an abnormality in one of the genes that codes for blood clotting factors VIII or IX. (brighthub.com)
- Many fanatics of life science have established that hemophilia is the consequence of a mutation or change in one of the genes. (bartleby.com)
- When a person gets a defective gene from one of their biological parents, they develop hemophilia A and hemophilia B. People with hemophilia C may receive defective genes from both of their biological parents. (differencebetween.net)
- Genetic testing can show if a woman is a carrier of the abnormal genes that cause hemophilia. (msdmanuals.com)
Treatment27
- for people with hemophilia to be treated without frequent high-volume blood transfusions, previously the only method of treatment. (encyclopedia.com)
- A gene-based therapy is potentially a step closer to becoming a one-time treatment for men with hemophilia . (dictionary.com)
- More serious injuries may need treatment in the doctor's office, hemophilia treatment center, or emergency room. (kidshealth.org)
- What are the treatment options for hemophilia? (healthline.com)
- Replacement therapy, that is replacing clotting factors (either factor 8 or 9) in a blood's patient, is the main treatment for hemophilia patients. (brighthub.com)
- Learn more about the Mass General Comprehensive Hemophilia Treatment Center, which operates within Mass General for Children and Mass General Hospital. (massgeneral.org)
- Get information from the Mass General Hemophilia and Thrombosis Treatment Center about upcoming programs and lectures. (massgeneral.org)
- The Mass General Hemophilia Treatment Center (HTC) is a comprehensive pediatric and adult program that promotes caring for the whole patient, including their physical, psychosocial, and mental well-being. (massgeneral.org)
- In cooperation with numerous hemophilia treatment centers and physicians, CDC has studied over 200 recipients of factor VIII and 36 recipients of factor IX concentrates containing materials from U.S. donors. (cdc.gov)
- The main treatment for hemophilia is replacing the missing clotting factor. (everydayhealth.com)
- The discovery ushered in the modern treatment of hemophilia. (everydayhealth.com)
- Your regional HTC can also help navigate the HTC Directory for Hemophilia Treatment Centers , and find the nearest center to your travel destination. (matadornetwork.com)
- We are one of roughly 150 comprehensive Hemophilia Treatment Centers (HTC) in the U.S. The HTC model of care uses a team approach that focuses on improving health and quality of life. (uwhealth.org)
- This agreement initiates a clinical developmentcollaboration dedicated to advancing a potential long-term treatment paradigmfor hemophilia patients. (drugdiscoverynews.com)
- This collaboration demonstrates Baxter's ongoingcommitment to scientific innovation in advancing treatment options for patientsliving with hemophilia. (drugdiscoverynews.com)
- The treatment of hemophilia may involve management of hemostasis, management of bleeding episodes, use of factor replacement products and medications, treatment of patients with factor inhibitors, and treatment and rehabilitation of patients with hemophilic synovitis. (medscape.com)
- Treatment of patients with hemophilia ideally should be provided through a comprehensive hemophilia care center. (medscape.com)
- The treatment aims to enable patients with hemophilia A to make the blood-clotting protein they otherwise lack. (equities.com)
- We expect that the new company will be a leader in discovering, developing, and commercialising innovative therapies for haemophilia, built on remarkable science and a deep understanding of how to continually improve treatment for patients," said George Scangos, Biogen's chief executive. (pharmatimes.com)
- If you have questions about your medications or insurance, please talk to your Hemophilia Treatment Center. (hfmich.org)
- If you are in need of premium assistance, contact your hemophilia treatment center social worker to learn what help is available. (hfmich.org)
- People with one form of the genetic blood disorder hemophilia now have a one-time treatment with a $3.5 million price tag. (medicalxpress.com)
- Treatment with investigational efanesoctocog alfa (formerly BIVV001) -- a new class of factor VIII replacement therapy -- prevented bleeding episodes in patients with severe hemophilia A, according to results from the phase III XTEND-1 trial . (medpagetoday.com)
- Efanesoctocog alfa is currently under review with the FDA for the treatment of hemophilia A, with a target action date of February 28, according to developers Sanofi and Sobi. (medpagetoday.com)
- 50 IU per deciliter) with currently available factor VIII therapies requires frequent administration, which confers a substantial treatment burden on people with hemophilia and their caregivers," they wrote. (medpagetoday.com)
- Hemophilia of Georgia is not engaged in the practice of medicine and does not endorse or support any particular factor concentrate or treatment protocol. (hog.org)
- Treatment strategies for acquired hemophilia have 2 major objectives. (medscape.com)
Moderate4
- Hemophilia A can be mild, moderate, or severe, depending on how little you have of factor VIII. (webmd.com)
- In individuals, especially those with moderate or mild haemophilia, any form of trauma can trigger the first significant bleed. (wikipedia.org)
- Moderate hemophilia , with levels 1 to 5 percent of the usual amount, can also include bleeding that occurs spontaneously, without a clear cause. (dictionary.com)
- People who have moderate hemophilia do not usually have spontaneous bleeding, but they do have longer bleeding and oozing after small injuries. (genome.gov)
Severity3
- Although hemophilia varies in severity from person to person, all patients with the disease bruise easily and bleed for abnormally long periods of time when cut. (encyclopedia.com)
- The severity of acquired hemophilia at clinical presentation can also make its management challenging. (medscape.com)
- He shared information with me about the unseen debilitation and physical damage that someone with hemophilia could experience, depending on the severity of his or her disorder. (hemophiliafed.org)
Mild haemophilia1
- However, mild haemophilia A is known to occur in heterozygous females due to X-inactivation, so it is recommended that levels of factor VIII and IX be measured in all known or potential carriers prior to surgery and in the event of clinically significant bleeding. (wikipedia.org)
Include hemophilia1
- Subtypes include hemophilia A, hemophilia B and hemophilia C. (panfoundation.org)
Severe haemophilia5
- In the case of severe haemophilia, patients may complain of multiple oral bleeding episodes throughout their life. (wikipedia.org)
- Dedicated physiotherapists (for both adults and children) undertake clinic appointments to regularly assess joint and muscle function for patients with severe haemophilia. (nuh.nhs.uk)
- Intron 22 inversion (inv22) may account for 45% of all cases of severe haemophilia A. Haemophilia A is underdiagnosed in South Africa (SA), and owing to limited resources the genotypes of most haemophilia A patients are unknown.Objectives. (bvsalud.org)
- With the real-time PCR method , 10 of the severe haemophilia A patients and 3 carriers tested inv22-positive. (bvsalud.org)
- Inv22 was found in 29.4% of the severe haemophilia A population and 22.2% of the potential carriers. (bvsalud.org)
Thrombosis Center1
- Meet the dedicated and passionate members of the Mass General Hemophilia and Thrombosis Center care team. (massgeneral.org)
Patients with severe3
- Boston, MA -- ( SBWIRE ) -- 02/03/2014 -- The competitive landscape of hemophilia A and B recombinant therapy in the US and 5EU is dominated by the use of recombinant FVIII and FIX replacement factors, and patients with severe forms of the disease receive frequent prophylactic infusions beginning from the first one or two years of life and often continuing through adulthood. (sbwire.com)
- The U.S. Food and Drug Administration on Thursday approved a costly single-dose gene therapy for patients with severe hemophilia A, a life-threatening hereditary bleeding disorder. (medicalxpress.com)
- Collectively, these results show that by maintaining high sustained factor VIII activity, once-weekly efanesoctocog alfa provided substantial improvements in clinical outcomes and quality of life for patients with severe hemophilia A," the authors wrote. (medpagetoday.com)
Treatments2
- CNBC's Meg Tirrell explains why major pharmaceutical companies are competing to come up with successful gene therapy treatments for hemophilia. (cnbc.com)
- In the late 1990s the courts ordered the Iranian Ministry of Health, in addition to providing free care with the latest treatments, to pay compensation to the haemophilia patients. (who.int)
Therapies5
- In late 2021, there were 46 gene therapies in the final, phase 3 stage of clinical trials, including High's therapy for hemophilia , an early version of which was first tested in humans 20 years ago. (dictionary.com)
- Although gene therapies for hemophilia aren't available yet, the latest results from a phase 3 study of BioMarin' s (NASDAQ: BMRN) valoctocogene roxaparvovec, or ValRox, suggest they're on the way. (nasdaq.com)
- Because he needs to inject himself with clotting protein factor 8 to treat his hemophilia, Dowsett is exempt from international cycling rules against injections and blood enhancement therapies, according to Cycling News . (everydayhealth.com)
- The new firm also plans to bring longer acting therapies utilising the XTEN technology into clinical development in the first half of 2017, and to accelerate development of bispecific antibodies and haemophilia-related gene therapy programmes. (pharmatimes.com)
- In a crowded field of transformative therapies for hemophilia, efanesoctocog alfa stands out as a winner -- a major therapeutic advance that achieves highly protective factor VIII levels with a once-weekly infusion," Leissinger concluded. (medpagetoday.com)
Mutations1
- Both types are caused by gene mutations, hemophilia A by a mutation of the F8 gene and hemophilia B by a mutation of the F9 gene. (encyclopedia.com)
FVIII6
- People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). (genome.gov)
- [ 1 ] Because inhibitors to FVIII are the most frequently observed in clinical practice, this article focuses on the etiology and management of FVIII autoantibody inhibitors, or acquired hemophilia A. (medscape.com)
- Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. (bartleby.com)
- According to GlobalData's primary research, the majority of Argentine hemophilia patients have access to recombinant FVIII and RIX products through private insurance plans or through the national social security program. (sbwire.com)
- In about 60 percent of cases, people with severe hemophilia A have less than 1 percent of FVIII in their blood. (healthday.com)
- Acquired hemophilia is a spontaneous autoimmune disorder in which patients with previously normal hemostasis develop autoantibodies against clotting factors, most frequently FVIII. (medscape.com)
Inhibitors3
- A therapeutic challenge in the management of hemophilia A arises from the development of factor VIII inhibitors against factor VIII, often occurring as a consequence of frequent infusions. (wikipedia.org)
- Feiba is an Anti-Inhibitor Coagulant Complex indicated for use in hemophilia A and B patients with inhibitors for control and prevention of bleeding episodes, perioperative management, or routine prophylaxis to prevent or reduce the frequency of bleeding episodes. (medicinenet.com)
- Patients with hemophilia A or B with inhibitors have a lower annualized bleeding rate with concizumab than with no prophylaxis, according to a phase 3 study published online Aug. 31 in the New England Journal of Medicine. (medicalxpress.com)
Carriers3
- Females are usually "carriers" of the hemophilia disease. (brighthub.com)
- Her two daughters became the carriers of hemophilia and passed on this disorder to German, Russian and Spanish royalties. (differencebetween.net)
- However, females can be carriers of hemophilia B and may show some signs of bleeding. (differencebetween.net)
Occur3
- Haemophilia substantially elevates the risk of protracted bleeding from ordinary injuries, and in severe cases, bleeding can occur spontaneously without an apparent cause. (wikipedia.org)
- In hemophilia , uncontrollable bleeding may occur from trifling injuries. (dictionary.com)
- Most cases occur in elderly persons, but acquired hemophilia is also seen in pregnancy and post partum, and in children. (medscape.com)
Males6
- Hemophilia occurs more commonly in males than in females. (genome.gov)
- One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide. (genome.gov)
- It has been estimated that every year 400 babies (usually males) are born with hemophilia. (brighthub.com)
- According to the Haemophilia Foundation Australia (2015), there are over 3,000 cases of haemophilia in Australia, and more than half the cases are in males. (bartleby.com)
- The National Haemophilia Foundation (2013) website shows that cases of haemophilia go back to the 2n d century, where Jewish boys who have records of uncontrollable bleeding leading to death in their family do not have to undergo circumcision, also cases in 10th century Arabia show deaths of males after uncontrollable bleeding due to trauma. (bartleby.com)
- The conditionappears in about one in 25,000 males, and approximately 4,000 people in theUnited States are currently diagnosed with hemophilia B. The disease is oftendebilitating and chronic, with complications such as bleeding episodes,hemophilic arthropathy (bleeding into a joint) and hospitalization. (drugdiscoverynews.com)
Factor VIII inhibitor1
- Title : Improving the performance of factor VIII inhibitor tests in hemophilia A Personal Author(s) : Miller, Connie H. Published Date : Sep 28 2015 Source : Thromb Res. (cdc.gov)
Blood17
- How severe the hemophilia is depends on the amount of factor in the blood. (medlineplus.gov)
- Hemophilia A is a condition that keeps your blood from clotting the way it should. (webmd.com)
- These signs often prompt blood tests that confirm the presence of haemophilia. (wikipedia.org)
- Hemophilia is a bleeding disorder that slows down the blood clotting process. (genome.gov)
- Hemophilia is a rare disease that prevents blood from clotting as it should. (kidshealth.org)
- Hemophilia is a blood clotting disorder that can be inherited. (healthline.com)
- Hemophilia is a genetic disorder that affects the clotting factors in the blood. (healthline.com)
- Hemophilia is treated by replacing the blood clotting factor, a protein that is missing from the blood. (healthline.com)
- Hemophilia is a genetic disease where there is a defect in the series of protein that forms blood clots. (bartleby.com)
- The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. (bartleby.com)
- The possibility of blood or blood products being vehicles for AIDS transmission to hemophilia patients has been supported by the finding of risk of acquisition of AIDS for intravenous drug abusers (7) and, subsequently, by reports of transfusion-associated AIDS cases (8). (cdc.gov)
- Later that night, during a phone conversation we were having, Warren shared more information about the complications of hemophilia because of tainted blood products. (hemophiliafed.org)
- With hemophilia, bleeding might go on for a longer time after an injury than it would if the blood clotted properly. (stclair.org)
- Hemophilia is an inherited blood disorder. (differencebetween.net)
- The unintentional contamination of haemophilia patients with HIV in the early 1980s raised serious questions about the safety of blood product supplies worldwide. (who.int)
- Because people who have hemophilia are born with it, blood clotting problems usually show up in young children unless the problem is very mild. (msdmanuals.com)
- To diagnose hemophilia, doctors do blood tests to see if your blood clots at a normal rate and whether there are enough clotting factors. (msdmanuals.com)
Episodes1
- Severe hemophilia A. In addition to bleeding after an injury, you may have frequent episodes of bleeding, often into the joints and muscles, without being able to figure out a specific cause. (webmd.com)
Foundation3
- This includes working with the Great Lakes Hemophilia Foundation for group activities like Camp Klotty Pine as well as conferences. (uwhealth.org)
- All profits from this competition will be donated to the Hemophilia Foundation of Nothern California (HFNC) . (worldcubeassociation.org)
- My mom and the Kentucky Hemophilia Foundation took me to meet the governor to talk about a hemophilia program," he recalls. (hemophiliavillage.com)
Advocacy1
- When a hemophilia advocacy group board member approached him with concerns about feeling out of place as a person without the condition, Carl offered some perspective. (hemophiliavillage.com)
Clinical3
- Theagreement between the two companies will involved the next generation of theBNP therapy technology, with Baxter and Chatham Therapeutics will investigatethrough U.S.-based hemophilia B clinical trials. (drugdiscoverynews.com)
- The collaboration with Chatham Therapeutics is one ofseveral avenues of research for Baxter in terms of hemophilia, as the companyis also conducting a Phase I/III clinical trial for its own drug candidate,BAX326. (drugdiscoverynews.com)
- Philadelphia-based Spark Therapeutics, with its partner Pfizer, published interim data from its Phase I/II clinical trial of a gene therapy for hemophilia B in The New England Journal of Medicine. (pharmalive.com)
Clotting8
- Producing the clotting factors missing in hemophilia patients is another possible application. (dictionary.com)
- However, people born with hemophilia have reduced levels of these clotting factors. (brighthub.com)
- A person with hemophilia A , the most common type, lacks clotting factor 8, while a person with hemophilia B lacks clotting factor 9. (everydayhealth.com)
- Until recently, when scientists were able to make clotting factor in the laboratory, most people with hemophilia did not live a very long life. (exploringnature.org)
- There are about 16,000 patients in the United States with hemophilia A in which they are missing the factor VIII clotting protein. (equities.com)
- Hemophilia of Georgia's nonprofit pharmacy provides convenient home delivery of clotting factor and other medications at competitive prices. (hog.org)
- The most prevalent kind of hemophilia is hemophilia A. It occurs when there is insufficient clotting factor 8 (factor VIII). (differencebetween.net)
- Hemophilia B is a condition where there is insufficient clotting factor 9 (factor IX). (differencebetween.net)
Spontaneous internal2
- People with hemophilia can experience spontaneous internal bleeding, primarily into the joints, which can last for days unless controlled by medication. (eurekalert.org)
- Severe hemophilia produces spontaneous internal bleeding in joints and muscles. (bartleby.com)
Depends2
- Hemophilia of Georgia depends on the support of dedicated volunteers. (hog.org)
- How much you bleed depends on how severe your hemophilia is. (msdmanuals.com)
Frequent3
- While superficial bleeding poses challenges, more critical sites of bleeding include: Joints Muscles Digestive tract Brain A therapeutic challenge in the management of hemophilia A arises from the development by the human body, inhibitor antibodies against factor VIII, often occurring as a consequence of frequent infusions. (wikipedia.org)
- hemophilia is a peculiar disease, consisting in frequent and often uncontrollable hemorrhages. (dictionary.com)
- In both severe hemophilia A and severe hemophilia B, the most frequent symptom is spontaneous joint bleeding. (genome.gov)