The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)
Blood-coagulation factor VIII. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin.
Storage-stable blood coagulation factor acting in the intrinsic pathway. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease).
Substances, usually endogenous, that act as inhibitors of blood coagulation. They may affect one or multiple enzymes throughout the process. As a group, they also inhibit enzymes involved in processes other than blood coagulation, such as those from the complement system, fibrinolytic enzyme system, blood cells, and bacteria.
Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.
Agents that cause clotting.
Activated form of factor VII. Factor VIIa activates factor X in the extrinsic pathway of blood coagulation.
Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation.
Identification of genetic carriers for a given trait.
Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
The process of the interaction of BLOOD COAGULATION FACTORS that results in an insoluble FIBRIN clot.
Bleeding or escape of blood from a vessel.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
Endogenous substances, usually proteins, that are involved in the blood coagulation process.
The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy.
Laboratory tests for evaluating the individual's clotting mechanism.
Antibodies from an individual that react with ISOANTIGENS of another individual of the same species.
The process which spontaneously arrests the flow of BLOOD from vessels carrying blood under pressure. It is accomplished by contraction of the vessels, adhesion and aggregation of formed blood elements (eg. ERYTHROCYTE AGGREGATION), and the process of BLOOD COAGULATION.
A genus of the family PARVOVIRIDAE, subfamily PARVOVIRINAE, which are dependent on a coinfection with helper adenoviruses or herpesviruses for their efficient replication. The type species is Adeno-associated virus 2.
The time required by whole blood to produce a visible clot.
DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.
Antibodies elicited in a different species from which the antigen originated. These antibodies are directed against a wide variety of interspecies-specific antigens, the best known of which are Forssman, Hanganutziu-Deicher (H-D), and Paul-Bunnell (P-B). Incidence of antibodies to these antigens--i.e., the phenomenon of heterophile antibody response--is useful in the serodiagnosis, pathogenesis, and prognosis of infection and latent infectious states as well as in cancer classification.
A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.
Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor VIIa in the extrinsic pathway of blood coagulation. The activated form then catalyzes the activation of factor X to factor Xa.
Use of a thrombelastograph, which provides a continuous graphic record of the physical shape of a clot during fibrin formation and subsequent lysis.
'Joint diseases' is a broad term that refers to medical conditions causing inflammation, degeneration, or functional impairment in any part of a joint, including the cartilage, bone, ligament, tendon, or bursa, thereby affecting movement and potentially causing pain, stiffness, deformity, or reduced range of motion.
Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums.
Antibodies that can catalyze a wide variety of chemical reactions. They are characterized by high substrate specificity and share many mechanistic features with enzymes.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
Proteins prepared by recombinant DNA technology.
A synthetic analog of the pituitary hormone, ARGININE VASOPRESSIN. Its action is mediated by the VASOPRESSIN receptor V2. It has prolonged antidiuretic activity, but little pressor effects. It also modulates levels of circulating FACTOR VIII and VON WILLEBRAND FACTOR.
Duration of blood flow after skin puncture. This test is used as a measure of capillary and platelet function.
Agents acting to arrest the flow of blood. Absorbable hemostatics arrest bleeding either by the formation of an artificial clot or by providing a mechanical matrix that facilitates clotting when applied directly to the bleeding surface. These agents function more at the capillary level and are not effective at stemming arterial or venous bleeding under any significant intravascular pressure.
Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).
Pregnane derivatives containing two double bonds anywhere within the ring structures.

Restricted isotypic antibody reactivity to hepatitis C virus synthetic peptides in immunocompromised patients. (1/1260)

An enzyme immunoassay based on three synthetic peptides from the core, NS4, and NS5 regions of hepatitis C virus allowed the detection of antibodies in 100% of immunocompetent infected patients and in 91% of immunocompromised patients (hemodialysis and hemophiliac patients). Immune impairment seemed to restrict the spectrum of antibody isotypes reacting to the core peptide.  (+info)

Chemokine and chemokine receptor gene variants and risk of non-Hodgkin's lymphoma in human immunodeficiency virus-1-infected individuals. (2/1260)

Normal B-lymphocyte maturation and proliferation are regulated by chemotactic cytokines (chemokines), and genetic polymorphisms in chemokines and chemokine receptors modify progression of human immunodeficiency virus-1 (HIV-1) infection. Therefore, 746 HIV-1-infected persons were examined for associations of previously described stromal cell-derived factor 1 (SDF-1) chemokine and CCR5 and CCR2 chemokine receptor gene variants with the risk of B-cell non-Hodgkin's lymphoma (NHL). The SDF1-3'A chemokine variant, which is carried by 37% of whites and 11% of blacks, was associated with approximate doubling of the NHL risk in heterozygotes and roughly a fourfold increase in homozygotes. After a median follow-up of 11.7 years, NHL developed in 6 (19%) of 30 SDF1-3'A/3'A homozygotes and 22 (10%) of 202 SDF1-+/3'A heterozygotes, compared with 24 (5%) of 514 wild-type subjects. The acquired immunodeficiency syndrome (AIDS)-protective chemokine receptor variant CCR5-triangle up32 was highly protective against NHL, whereas the AIDS-protective variant CCR2-64I had no significant effect. Racial differences in SDF1-3'A frequency may contribute to the lower risk of HIV-1-associated NHL in blacks compared with whites. SDF-1 genotyping of HIV-1-infected patients may identify subgroups warranting enhanced monitoring and targeted interventions to reduce the risk of NHL.  (+info)

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. (3/1260)

Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. We performed single-strand conformation and sequence analysis of the ERGIC-53 gene in 35 F5F8D families of different ethnic origins. We identified 13 distinct mutations accounting for 52 of 70 mutant alleles. These were 3 splice site mutations, 6 insertions and deletions resulting in translational frameshifts, 3 nonsense codons, and elimination of the translation initiation codon. These mutations are predicted to result in synthesis of either a truncated protein product or no protein at all. This study revealed that F5F8D shows extensive allelic heterogeneity and all ERGIC-53 mutations resulting in F5F8D are "null." Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals. In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci.  (+info)

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (4/1260)

Combined factors V and VIII deficiency is an autosomal recessive bleeding disorder associated with plasma levels of coagulation factors V and VIII approximately 5% to 30% of normal. The disease gene was recently identified as the endoplasmic reticulum-Golgi intermediate compartment protein ERGIC-53 by positional cloning, with the detection of two founder mutations in 10 Jewish families. To identify mutations in additional families, the structure of the ERGIC-53 gene was determined by genomic polymerase chain reaction (PCR) and sequence analysis of bacterial artificial chromosome clones containing the ERGIC-53 gene. Nineteen additional families were analyzed by direct sequence analysis of the entire coding region and the intron/exon junctions. Seven novel mutations were identified in 10 families, with one additional family found to harbor one of the two previously described mutations. All of the identified mutations would be predicted to result in complete absence of functional ERGIC-53 protein. In 8 of 19 families, no mutation was identified. Genotyping data indicate that at least two of these families are not linked to the ERGIC-53 locus. Taken together, these results suggest that a significant subset of combined factors V and VIII deficiency is due to mutation in one or more additional genes.  (+info)

Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (5/1260)

Two unrelated patients with the same Arg2150His mutation in the factor VIII (FVIII) C1 domain, a residual FVIII activity of 0.09 IU/mL, and inhibitor titres of 300 and 6 Bethesda Units, respectively, were studied. Further analysis of patient LE, with the highest inhibitor titer, showed that (1) plasma or polyclonal IgG antibodies prepared from LE plasma inhibited the activity of allogeneic (wild-type) but not of self FVIII; (2) the presence of von Willebrand factor (vWF) increased by over 10-fold the inhibitory activity on wild-type FVIII; (3) the kinetics of FVIII inhibition followed a type II pattern, but in contrast to previously described type II inhibitors, LE IgG was potentiated by the presence of vWF instead of being in competition with it; (4) polyclonal LE IgG recognized the FVIII light chain in enzyme-linked immunosorbent assay and the recombinant A3-C1 domains in an immunoprecipitation assay, indicating that at least part of LE antibodies reacted with the FVIII domain encompassing the mutation site; and (5) LE IgG inhibited FVIII activity by decreasing the rate of FVIIIa release from vWF, but LE IgG recognized an epitope distinct from ESH8, a murine monoclonal antibody exhibiting the same property. We conclude that the present inhibitors are unique in that they clearly distinguish wild-type from self, mutated FVIII. The inhibition of wild-type FVIII by LE antibody is enhanced by vWF and is associated with an antibody-dependent reduced rate of FVIIIa release from vWF.  (+info)

The locked patella. An unusual complication of haemophilia. (6/1260)

Mechanical derangements of the knee are an uncommon complication of chronic haemophiliac arthropathy. Two patients with locking of the patella were treated by manipulation. The mechanism of the injury was forced flexion of the knee joint beyond the limit of its restricted range. The injury is a serious one and may take six months to recover.  (+info)

Prevalence and changes in hepatitis C virus genotypes among multitransfused persons with hemophilia. The Multicenter Hemophilia Cohort Study. (7/1260)

The purpose of this study was to determine hepatitis C virus (HCV) genotypes and their relationship to HCV RNA levels over time in a cohort of multitransfused hemophiliacs. Following reverse transcription and polymerase chain reaction amplification of HCV RNA, the product DNAs were genotyped by using the line probe assay. HCV RNA was quantified by the branched-chain DNA assay. Genotyping was done on 109 serum samples from 32 subjects. Genotype 3a had the highest prevalence (41%), followed by genotypes 1a (31%) and 1b (13%). Changes in genotypes were observed in 18 (58%) of the subjects >3-15 years of age. Changes were more common in human immunodeficiency virus (HIV)-positive subjects (13/17) than in HIV-negative subjects (5/15) (P=.014). HCV RNA increased 30-fold in HIV-positive subjects whose genotypes changed. Consensus nucleotide sequencing confirmed genotype changes in 2 patients. We conclude that genotype changes are common in hemophiliacs with chronic HCV, particularly in those who are coinfected with HIV.  (+info)

Hepatitis C virus is related to progressive liver disease in human immunodeficiency virus-positive hemophiliacs and should be treated as an opportunistic infection. (8/1260)

The hypothesis was investigated that hepatitis C virus (HCV) infection behaves like an opportunistic infection in which progressive liver disease (PLD) is the principal manifestation. PLD in 81 hemophiliacs coinfected with HCV and human immunodeficiency virus (HIV) was compared with 53 HIV-seronegative HCV-infected hemophiliacs. Progression to AIDS and death in 22 HCV/HIV-coinfected hemophiliacs with PLD was also compared with 59 coinfected hemophiliacs who did not develop PLD. The risk of PLD occurrence associated with an HIV-positive status was 7.4 (95% confidence interval [CI], 2.2-25.5; Cox model). In the coinfected group, the risk of PLD occurrence was higher in subjects with severe AIDS-defining immunodeficiency than in those without (odds ratio, 3. 6; 95% CI, 1.3-10). Persons with PLD also had a faster progression to AIDS (P=.03, log rank test) than those without PLD. Thus, as with other chronic resident human viruses, HCV should be considered another opportunistic pathogen in HIV disease.  (+info)

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

A chromosome inversion is a genetic rearrangement where a segment of a chromosome has been reversed end to end, so that its order of genes is opposite to the original. This means that the gene sequence on the segment of the chromosome has been inverted.

In an inversion, the chromosome breaks in two places, and the segment between the breaks rotates 180 degrees before reattaching. This results in a portion of the chromosome being inverted, or turned upside down, relative to the rest of the chromosome.

Chromosome inversions can be either paracentric or pericentric. Paracentric inversions involve a segment that does not include the centromere (the central constriction point of the chromosome), while pericentric inversions involve a segment that includes the centromere.

Inversions can have various effects on an individual's phenotype, depending on whether the inversion involves genes and if so, how those genes are affected by the inversion. In some cases, inversions may have no noticeable effect, while in others they may cause genetic disorders or predispose an individual to certain health conditions.

Blood coagulation factors, also known as clotting factors, are a group of proteins that play a crucial role in the blood coagulation process. They are essential for maintaining hemostasis, which is the body's ability to stop bleeding after injury.

There are 13 known blood coagulation factors, and they are designated by Roman numerals I through XIII. These factors are produced in the liver and are normally present in an inactive form in the blood. When there is an injury to a blood vessel, the coagulation process is initiated, leading to the activation of these factors in a specific order.

The coagulation cascade involves two pathways: the intrinsic and extrinsic pathways. The intrinsic pathway is activated when there is damage to the blood vessel itself, while the extrinsic pathway is activated by tissue factor released from damaged tissues. Both pathways converge at the common pathway, leading to the formation of a fibrin clot.

Blood coagulation factors work together in a complex series of reactions that involve activation, binding, and proteolysis. When one factor is activated, it activates the next factor in the cascade, and so on. This process continues until a stable fibrin clot is formed.

Deficiencies or abnormalities in blood coagulation factors can lead to bleeding disorders such as hemophilia or thrombosis. Hemophilia is a genetic disorder that affects one or more of the coagulation factors, leading to excessive bleeding and difficulty forming clots. Thrombosis, on the other hand, occurs when there is an abnormal formation of blood clots in the blood vessels, which can lead to serious complications such as stroke or pulmonary embolism.

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.

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.

Isoantibodies are antibodies produced by the immune system that recognize and react to antigens (markers) found on the cells or tissues of another individual of the same species. These antigens are typically proteins or carbohydrates present on the surface of red blood cells, but they can also be found on other cell types.

Isoantibodies are formed when an individual is exposed to foreign antigens, usually through blood transfusions, pregnancy, or tissue transplantation. The exposure triggers the immune system to produce specific antibodies against these antigens, which can cause a harmful immune response if the individual receives another transfusion or transplant from the same donor in the future.

There are two main types of isoantibodies:

1. Agglutinins: These are IgM antibodies that cause red blood cells to clump together (agglutinate) when mixed with the corresponding antigen. They develop rapidly after exposure and can cause immediate transfusion reactions or hemolytic disease of the newborn in pregnant women.
2. Hemolysins: These are IgG antibodies that destroy red blood cells by causing their membranes to become more permeable, leading to lysis (bursting) of the cells and release of hemoglobin into the plasma. They take longer to develop but can cause delayed transfusion reactions or hemolytic disease of the newborn in pregnant women.

Isoantibodies are detected through blood tests, such as the crossmatch test, which determines compatibility between a donor's and recipient's blood before transfusions or transplants.

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.

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.

Whole Blood Coagulation Time (WBCT) is not a standard term used in medical literature. However, I believe you may be referring to "bleeding time" or "coagulation time" which are tests used to evaluate the function of the blood's clotting system.

Bleeding time is a measure of how long it takes for bleeding to stop after a small cut is made in the skin. It helps assess the function of the platelets and the smaller blood vessels.

Coagulation time, on the other hand, measures the time it takes for a larger clot to form in whole blood. This test is not commonly used in clinical practice.

It's important to note that these tests have largely been replaced by more specific coagulation tests, such as prothrombin time (PT) and activated partial thromboplastin time (aPTT), which provide more detailed information about the different components of the clotting system.

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.

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.

Von Willebrand factor (vWF) is a large multimeric glycoprotein that plays a crucial role in hemostasis, the process which leads to the cessation of bleeding and the formation of a blood clot. It was named after Erik Adolf von Willebrand, a Finnish physician who first described the disorder associated with its deficiency, known as von Willebrand disease (vWD).

The primary functions of vWF include:

1. Platelet adhesion and aggregation: vWF mediates the initial attachment of platelets to damaged blood vessel walls by binding to exposed collagen fibers and then interacting with glycoprotein Ib (GPIb) receptors on the surface of platelets, facilitating platelet adhesion. Subsequently, vWF also promotes platelet-platelet interactions (aggregation) through its interaction with platelet glycoprotein IIb/IIIa (GPIIb/IIIa) receptors under high shear stress conditions found in areas of turbulent blood flow, such as arterioles and the capillary bed.

2. Transport and stabilization of coagulation factor VIII: vWF serves as a carrier protein for coagulation factor VIII (FVIII), protecting it from proteolytic degradation and maintaining its stability in circulation. This interaction between vWF and FVIII is essential for the proper functioning of the coagulation cascade, particularly in the context of vWD, where impaired FVIII function can lead to bleeding disorders.

3. Wound healing: vWF contributes to wound healing by promoting platelet adhesion and aggregation at the site of injury, which facilitates the formation of a provisional fibrin-based clot that serves as a scaffold for tissue repair and regeneration.

In summary, von Willebrand factor is a vital hemostatic protein involved in platelet adhesion, aggregation, coagulation factor VIII stabilization, and wound healing. Deficiencies or dysfunctions in vWF can lead to bleeding disorders such as von Willebrand disease.

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).

Thromboelastography (TEG) is a viscoelastic method used to assess the kinetics of clot formation, clot strength, and fibrinolysis in whole blood. It provides a global assessment of hemostasis by measuring the mechanical properties of a clot as it forms and dissolves over time. The TEG graph displays several parameters that reflect the different stages of clotting, including reaction time (R), clot formation time (K), angle of clot formation (α), maximum amplitude (MA), and percentage lysis at 30 minutes (LY30). These parameters can help guide transfusion therapy and inform decisions regarding the management of coagulopathy in various clinical settings, such as trauma, cardiac surgery, liver transplantation, and obstetrics.

Joint diseases is a broad term that refers to various conditions affecting the joints, including but not limited to:

1. Osteoarthritis (OA): A degenerative joint disease characterized by the breakdown of cartilage and underlying bone, leading to pain, stiffness, and potential loss of function.
2. Rheumatoid Arthritis (RA): An autoimmune disorder causing inflammation in the synovial membrane lining the joints, resulting in swelling, pain, and joint damage if left untreated.
3. Infectious Arthritis: Joint inflammation caused by bacterial, viral, or fungal infections that spread through the bloodstream or directly enter the joint space.
4. Gout: A type of arthritis resulting from the buildup of uric acid crystals in the joints, typically affecting the big toe and characterized by sudden attacks of severe pain, redness, and swelling.
5. Psoriatic Arthritis (PsA): An inflammatory joint disease associated with psoriasis, causing symptoms such as pain, stiffness, and swelling in the joints and surrounding tissues.
6. Juvenile Idiopathic Arthritis (JIA): A group of chronic arthritis conditions affecting children, characterized by joint inflammation, pain, and stiffness.
7. Ankylosing Spondylitis: A form of arthritis primarily affecting the spine, causing inflammation, pain, and potential fusion of spinal vertebrae.
8. Bursitis: Inflammation of the fluid-filled sacs (bursae) that cushion joints, leading to pain and swelling.
9. Tendinitis: Inflammation or degeneration of tendons, which connect muscles to bones, often resulting in pain and stiffness near joints.

These conditions can impact the function and mobility of affected joints, causing discomfort and limiting daily activities. Proper diagnosis and treatment are essential for managing joint diseases and preserving joint health.

Oral hemorrhage, also known as oral bleeding or mouth bleed, refers to the escape of blood from the blood vessels in the oral cavity, which includes the lips, gums, tongue, palate, and cheek lining. It can result from various causes such as trauma, dental procedures, inflammation, infection, tumors, or systemic disorders that affect blood clotting or cause bleeding tendencies. The bleeding may be minor and self-limiting, or it could be severe and life-threatening, depending on the underlying cause and extent of the bleed. Immediate medical attention is required for heavy oral hemorrhage to prevent airway obstruction, hypovolemia, and other complications.

Catalytic antibodies, also known as abzymes or catalytic immune proteins, are a type of antibody that possesses enzymatic activity. They are capable of accelerating specific chemical reactions in a manner similar to traditional enzymes. This unique property arises from the ability of certain antibodies to bind substrates and promote their conversion into products through a series of chemical transformations.

Catalytic antibodies are generated by immunizing an organism with a transition state analogue, a molecule that mimics the high-energy, transient structure of a substrate during a chemical reaction. The immune system recognizes this analogue as foreign and produces antibodies against it. Some of these antibodies will bind to the transition state analogue in a way that stabilizes its geometry and lowers the energy barrier for the conversion of the substrate into the product. This results in the formation of a catalytic antibody, which can then accelerate this specific chemical reaction when presented with the appropriate substrate.

These specialized antibodies have attracted significant interest in the fields of chemistry, biochemistry, and immunology due to their potential applications in various areas, including drug design, diagnostics, and environmental monitoring. However, it is important to note that catalytic antibodies are still a subject of ongoing research, and their use as practical tools in these applications is not yet widespread.

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.

A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.

Recombinant proteins are artificially created proteins produced through the use of recombinant DNA technology. This process involves combining DNA molecules from different sources to create a new set of genes that encode for a specific protein. The resulting recombinant protein can then be expressed, purified, and used for various applications in research, medicine, and industry.

Recombinant proteins are widely used in biomedical research to study protein function, structure, and interactions. They are also used in the development of diagnostic tests, vaccines, and therapeutic drugs. For example, recombinant insulin is a common treatment for diabetes, while recombinant human growth hormone is used to treat growth disorders.

The production of recombinant proteins typically involves the use of host cells, such as bacteria, yeast, or mammalian cells, which are engineered to express the desired protein. The host cells are transformed with a plasmid vector containing the gene of interest, along with regulatory elements that control its expression. Once the host cells are cultured and the protein is expressed, it can be purified using various chromatography techniques.

Overall, recombinant proteins have revolutionized many areas of biology and medicine, enabling researchers to study and manipulate proteins in ways that were previously impossible.

Desmopressin, also known as 1-deamino-8-D-arginine vasopressin (dDAVP), is a synthetic analogue of the natural hormone arginine vasopressin. It is commonly used in medical practice for the treatment of diabetes insipidus, a condition characterized by excessive thirst and urination due to lack of antidiuretic hormone (ADH).

Desmopressin works by binding to V2 receptors in the kidney, which leads to increased water reabsorption and reduced urine production. It also has some effect on V1 receptors, leading to vasoconstriction and increased blood pressure. However, its primary use is for its antidiuretic effects.

In addition to its use in diabetes insipidus, desmopressin may also be used to treat bleeding disorders such as hemophilia and von Willebrand disease, as it can help to promote platelet aggregation and reduce bleeding times. It is available in various forms, including nasal sprays, injectable solutions, and oral tablets or dissolvable films.

Bleeding time is a medical test that measures the time it takes for a small blood vessel to stop bleeding after being cut. It's used to evaluate platelet function and the effectiveness of blood clotting. The most common method used to measure bleeding time is the Ivy method, which involves making a standardized incision on the forearm and measuring the time it takes for the bleeding to stop. A normal bleeding time ranges from 2 to 9 minutes, but this can vary depending on the specific method used. Prolonged bleeding time may indicate an impairment in platelet function or clotting factor deficiency.

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.

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.

Pregnadienes are a class of steroid hormones that contain a unsaturated bond between the C4 and C5 positions in their steroid nucleus. They are important precursors in the biosynthesis of various sex steroids, such as progesterone and testosterone, in the human body. Pregnadienes are derived from pregnanes, which have a saturated bond at this position. The term "pregnadiene" refers to the chemical structure of these hormones, specifically their double bond at the C4-C5 position. They play a crucial role in the regulation of various physiological processes related to reproduction and sexual development.

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It is named for the blood disease hemophilia. World Federation of Hemophilia "Canadian Hemophilia Society Homepage". Hemophilia ... The Canadian Hemophilia Society (CHS) is a non-profit organization founded in 1953 whose mission is to lead the fight against ... Haemophilia, All stub articles, Medical organization stubs, Non-profit organization stubs). ...
World Hemophilia Day is aimed at raising awareness about haemophilia and other bleeding disorders. "World Haemophilia Day 2023 ... "World Haemophilia Day 2018". The Haemophilia Society. Retrieved 2023-04-19. We are also promoting the World Haemophilia Day ... World Hemophilia Day is held annually on April 17 by the WFH. It is an awareness day for hemophilia and other bleeding ... "World Hemophilia Day 2009". World Federation of Hemophilia. Archived from the original on 2012-02-22. Retrieved 2010-04-17. " ...
... haemophilia A, haemophilia B, haemophilia C, parahaemophilia, acquired haemophilia A, and acquired haemophilia B. Haemophilia A ... Haemophilia A affects about 1 in 5,000-10,000, while haemophilia B affects about 1 in 40,000 males at birth. As haemophilia A ... "Hemophilia". Genome.gov. Retrieved 2022-01-21. Naqvi, Erum. "Hemophilia and Pregnancy - Hemophilia News Today". Retrieved 2021- ... Wikimedia Commons has media related to Hemophilia. Haemophilia at Curlie World Federation of Hemophilia (Webarchive template ...
... (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby ... It was seen that almost 14% of all haemophilia patients and 30% of cases with a mild type of haemophilia have been diagnosed ... The symptoms depend on the severity of haemophilia. In the case of severe haemophilia, patients may complain of multiple oral ... Haemophilia A is inherited as an X-linked recessive trait. It occurs in males and in homozygous females (which is only possible ...
... as common as haemophilia A. In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, ... However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia ... In terms of differential diagnosis, one must consider: haemophilia A, haemophilia B, lupus anticoagulant and heparin ... Haemophilia C is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia A and B by the fact it ...
Haemophilia A Haemophilia C Haemophilia in European royalty von Willebrand's disease "Hemophilia B: MedlinePlus Medical ... ISBN 978-1-60795-188-9. "OMIM Entry - # 306900 - HEMOPHILIA B; HEMB". omim.org. Retrieved 2016-10-07. "Hemophilia". "Hemophilia ... The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with ... Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited ...
HLA genotype in patients with acquired haemophilia A. Haemophilia 2010; 16:107. Wootla B, Desirazu N, Friboulet A, Uda T, ... Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). J ... Haemophilia 2015; 21:162. Collins PW, Hirsch S, Baglin TP, Dolan G, Hanley J, Makris M, et al.Acquired hemophilia A in the ... Acquired hemophilia A: a review of recent data and new therapeutic options. Hematology. 2017; 22: 514-20. Green D, Lechner K. A ...
... sixty five with haemophilia A, twenty one with haemophilia B and four with von Willebrand disease. In 1977 a new haemophilia ... The Irish Haemophilia Society was founded in 1968 when a group of people with haemophilia, their families, friends and medical ... The Irish Haemophilia Society (IHS) is an organization that represents the interests of people with haemophilia, von Willebrand ... The Irish Haemophilia Society was not permitted to have its own legal representation at the tribunal and although Mary Daly of ...
The Haemophilia Society. 25 May 2007. p. 38. This waiver is controversial because many people with haemophilia believe that the ... The HIV Haemophilia Litigation [1990] 41 BMLR 171, [1990] 140 NLJR 1349 (CA), [1989] E N. 2111, also known as AMcG002, and HHL ... He was also a senior member of the expert medical advisory panel to the Haemophilia Society and a member of the research and ... "HIV Haemophilia Litigation" refers to the case AMcG002 v Central Birmingham Health Authority (1), Coventry and District Health ...
Contaminated hemophilia blood products were a serious public health problem in the late 1970s up to 1985. These products caused ... The case followed complaints by families of around 170 people, many of them children, who had hemophilia or thalassaemia. ... met with leaders of the hemophilia community to outline the terms of a $125 million offer. Rejecting the offer, David Shrager, ... "appear responsible for AIDS among hemophilia patients." By May 1983, a Cutter rival began making a heat-treated concentrate and ...
Because the last known descendant of Queen Victoria with haemophilia died in the 1940s, the exact type of haemophilia found in ... Haemophilia in European royalty, European royalty, Late modern Europe, Haemophilia). ... Although an individual's haemophilia can usually be traced in the ancestry, in about 30% of cases there is no family history of ... Maurice's haemophilia is disputed by various sources: It seems unlikely that a known haemophiliac would be allowed to serve in ...
The United Kingdom Haemophilia Centre Doctors' Organisation before 1993 was known as the United Kingdom Haemophilia Centre ... this information is stored on the National Haemophilia Database which is managed and run by UKHCDO. "ukhcdo". ukhcdo.org. ... Haemophilia, All stub articles, United Kingdom medical organisation stubs). ...
... the Canadian Hemophilia Society, and the Association of Hemophilia Clinic Directors of Canada) to examine what changes had been ... The Canadian Hemophilia Society demanded the product be pulled, but the Red Cross refused. According to one estimate, about 133 ... Contaminated haemophilia blood products Health Management Associates scandal Factor 8: The Arkansas Prison Blood Scandal ... later Bayer Inc.); and nine organizations, including the Canadian Hemophilia Society and the Canadian AIDS Society, that ...
Hemophilia refers to a group of bleeding disorders in which it takes a long time for the blood to clot. This is referred to as ... Hemophilia is much more common in males than females because males are hemizygous. They only have one copy of the gene in ... "Hemophilia". PubMed Health. U.S. National Library of Medicine. Archived from the original on 2013-12-22. Retrieved 2017-11-01 ...
"Val Bias, 63, crusader for better care for those with hemophilia and HIV/AIDS". Buffalo News. January 12, 2022. Retrieved May 4 ... In 2016, the NHF began recognizing March as Bleeding Disorders Awareness Month, to raise hemophilia and von Willebrand disease ... "Red Tie Campaign Aims to Protect Access to Affordable, Quality Care for People with Bleeding Disorders". Hemophilia News Today ... "Scholarship Pays Tribute to the Legacy of Late Patient Jason Fulton". Hemophilia News Today. January 3, 2022. Retrieved May 4, ...
"Area23: Managing Director, Executive Creative Director Tim Hawkey" (PDF). Hemophilia.org. Retrieved December 30, 2016. "EJ ...
"What Is Hemophilia?". NHLBI. 13 July 2013. Retrieved 8 September 2016. "Hemophilia Facts". CDC. 26 August 2014. Retrieved 8 ... "Hemophilia Federation (India) - Product Safety". Hemophilia.in. Glenarthur, Simon (5 December 1983). "Blood: Licensing ... "1982- AIDS is Discovered Among Hemophilia Patients". Hemophilia Federation of America. 17 March 2014. "1983-CDC Determines that ... Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to clot, a process needed to stop bleeding. ...
"Area23: Managing Director, Executive Creative Director Tim Hawkey" (PDF). Hemophilia.org. Retrieved December 30, 2016. Plump, ...
ISBN 978-1-4251-6810-0. "Hemophilia B (Factor IX)". National Hemophilia Foundation. 2006. Retrieved 20 June 2010. Peters, ... Since hæmophilia is X-linked, in order for a father to transmit the condition he must have it himself, but Conroy was healthy. ... Concrete evidence on the origins of the hæmophilia disease and paternity of Victoria could be achieved with a DNA test of her ... Nor is there evidence of hæmophilia in either Conroy's ancestors or descendants, or any mention of any hæmophiliacs in any ...
"Arthrograms in hemophilia". Radiology. 102 (1): 135-8. doi:10.1148/102.1.135. PMID 5008134.; Hope, JW; Borns, PF (December 1965 ...
Re Haemophilia in European royalty) The Victor McKusick collection (personal papers) The Victor A. McKusick Papers - Profiles ... January 1994). McKusick, Victor A. (August 1965). "The Royal Hemophilia". Scientific American. 213 (2): 88-95. Bibcode: ...
STX11 Hemophilia B; 306900; F9 Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh; 613490; SERPINA1 Hemosiderosis, ...
"NHF State of the Science Research Summit". National Hemophilia Foundation. Retrieved 2021-08-05. (All articles with dead ...
On 6 January 2018, Chris Bombardier reached the summit of Mount Vinson, becoming the first person with hemophilia to complete ... "Hemophiliac Chris Bombardier Becomes First Ever to Climb 'Seven Summits'". Hemophilia News Today. 2018-02-07. Retrieved 2018-08 ...
This is now known to have been Hemophilia B (see below). Hemophilia B, also known as Christmas disease, a blood clotting ... "Hemophilia B". Archived 2007-12-01 at the Wayback Machine National Hemophilia Foundation. Carlo Gelmetti; Caputo, Ruggero (2002 ... Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of Factor VIII ... It is rarer than hemophilia A. As noted above, it was common among the descendants of Queen Victoria. Duchenne muscular ...
43-44 "Hemophilia B (Factor IX)". National Hemophilia Foundation. 2006. Retrieved 20 June 2010. McKusick, Victor A. (1965). " ... since haemophilia is X-linked, meaning that her mother would have been a carrier, if haemophilia was not otherwise previously ... Haemophilia occurs spontaneously through mutation in at least 30% of cases, and especially in children of older fathers such as ... "The Royal Hemophilia". Scientific American. Vol. 213. p. 91. Jones, Steve (1993). The Language of the Genes. London: ...
O'Connor, John J (January 16, 1989). "Review/Television; AIDS and Hemophilia". The New York Times. Archived from the original ... Pemberton, Stephen (2011-05-25). The Bleeding Disease: Hemophilia and the Unintended Consequences of Medical ... - Stephen ... Works about contaminated haemophilia blood products, HIV/AIDS in television, Films set in 1985, Films set in 1986, ABC Motion ...
People with haemophilia, Recipients of contaminated haemophilia blood products, History of HIV/AIDS). ... ISBN 978-0-8037-0977-5.[page needed] Resnik, Susan (1999). Blood Saga: Hemophilia, AIDS, and the Survival of a Community. ... O'Connor, John J (January 16, 1989). "Review/Television; AIDS and Hemophilia". The New York Times. Archived from the original ... as did thousands of other Americans with hemophilia and hemophiliacs around the world. At that time, because the virus had only ...
"What Is Hemophilia?". cdc.gov. U.S. Centers for Disease Control. 12 May 2020. Retrieved 3 April 2021. "Gout". The Lecturio ...
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Patients with acquired hemophilia may have no bleeding, mild bleeds, or life-threatening bleeds. (medscape.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)
  • 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)
  • 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)
  • 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)
  • According to the CDC (Centers for Disease Control and Prevention), hemophilia A affects roughly 10 in every 100,000 persons. (differencebetween.net)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Advances in gene therapy technology are making it possible to treat genetic diseases like hemophilia . (dictionary.com)
  • Gene therapy for hemophilia? (brighthub.com)
  • Gene therapy for hemophilia is in its research phase. (brighthub.com)
  • In 2000 the Children's Hospital of Philadelphia and Stanford University used gene therapy to help patients with hemophilia B. However, there were only 3 patients in the study. (brighthub.com)
  • CNBC's Meg Tirrell explains why major pharmaceutical companies are competing to come up with successful gene therapy treatments for hemophilia. (cnbc.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)
  • 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)
  • 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)
  • A single gene therapy injection could dramatically reduce the bleeding risk faced by people with hemophilia B, finds a study involving UCL researchers. (medicalxpress.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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Now tiny Tremeau Pharmaceuticals is working to bring back it back, to treat severe joint pain caused by the bleeding disorder hemophilia. (cbsnews.com)
  • It was not until the twentieth century that doctors were able to understand the cause of hemophilia. (encyclopedia.com)
  • 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)
  • 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)
  • Hemophilia A comes from your genes. (webmd.com)
  • 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)
  • 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)
  • 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 main treatment for serious hemophilia involves receiving blood-clotting proteins through a tube in a vein. (stclair.org)
  • 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)
  • 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)
  • The treatment aims to enable patients with hemophilia A to make the blood-clotting protein they otherwise lack. (equities.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Meet the dedicated and passionate members of the Mass General Hemophilia and Thrombosis Center care team. (massgeneral.org)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. (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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Hemophilia is a bleeding disorder in which a person lacks proteins known as clotting factors. (everydayhealth.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)
  • 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)
  • 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)
  • 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)
  • Hemophilia A usually runs in families, but about one-third of people with the disease don't have a family history of it. (webmd.com)
  • and hemophilia B, called Christmas disease, which accounts for the remaining 20 percent. (encyclopedia.com)
  • Hemophilia is a disease that has been known for centuries, although ancient doctors could do little to treat it. (encyclopedia.com)
  • Hemophilia became known as the royal disease in the later nineteenth century, when several descendants of Queen Victoria (1819-1901)-including the queen's youngest son, Leopold-died young from brain hemorrhages. (encyclopedia.com)
  • In 1539 Benedictus noted the occurrence of hemophilia or bleeders' disease. (dictionary.com)
  • Why is hemophilia B called Christmas disease? (differencebetween.net)
  • Hemophilia B is also termed as 'Christmas disease' after the first patient was affected by this disorder back in 1952. (differencebetween.net)
  • Queen Victoria's son - Prince Leopold born on April 7, 1853 was her only son affected by disease hemophilia. (differencebetween.net)