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Hemophilia C
Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly occurs in Ashkenazi Jews. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A. Signs and symptoms In terms of the signs/symptoms of haemophilia C, unlike individuals with Haemophilia A and B, people affected by it are not ones to bleed spontaneously. In these cases, haemorrhages tend to happen after a major surgery or injury. However, people affected with haemophilia C might experience symptoms closely related to those of other forms of haemophilia such as the following: Cause Haemophilia C is caused by a deficiency of coagulation factor XI and is distinguished from haemophilia A and B by the fact it doe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haematology
Hematology ( spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, sickle cell anemia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hematology laboratory viewing blood films and bone marrow s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bernard–Soulier Syndrome
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the '' glycoprotein Ib-IX-V complex'' (GPIb-IX-V), the receptor for von Willebrand factor. The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan. BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets. Signs and symptoms Bernard–Soulier syndrome often presents as a bleeding disorder with symptoms of: Genetics In regards to mechanism, there are three genes, '' GP1BA'', '' GP1BB'' and '' GP9'' that are involved (due to mutations). These mutations do not allow the GPIb-IX-V complex to bind to the von Willebrand factor, which in turn is what would help platelets adhere to a site of injury which eventually helps stop bleeding. Diagnosis In terms of diagnosis Bernard–Soulier syndrome is characterized by prolonged bleeding time, thrombocytop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bleeding Diathesis
In medicine (hematology), bleeding diathesis is an unusual susceptibility to bleed (hemorrhage) mostly due to hypocoagulability (a condition of irregular and slow blood clotting), in turn caused by a coagulopathy (a defect in the system of coagulation). Therefore, this may result in the reduction of platelets being produced and leads to excessive bleeding. Several types of coagulopathy are distinguished, ranging from mild to lethal. Coagulopathy can be caused by thinning of the skin ( Cushing's syndrome), such that the skin is weakened and is bruised easily and frequently without any trauma or injury to the body. Also, coagulopathy can be contributed by impaired wound healing or impaired clot formation. Signs and symptoms Complications Following are some complications of coagulopathies, some of them caused by their treatments: Causes While there are several possible causes, they generally result in excessive bleeding and a lack of clotting. Acquired Acquired causes of coa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IUDs
An intrauterine device (IUD), also known as an intrauterine contraceptive device (IUCD or ICD) or coil, is a small, often T-shaped birth control device that is inserted into the uterus to prevent pregnancy. IUDs are a form of Long-acting reversible contraceptives, long-acting reversible contraception (LARC). The use of IUDs as a form of birth control dates from the 1800s. A previous model known as the Dalkon shield was associated with an increased risk of pelvic inflammatory disease (PID). However, current models do not affect PID risk in women without sexually transmitted infections during the time of insertion. Although copper IUDs may increase menstrual bleeding and result in painful cramps, hormonal IUDs may reduce menstrual bleeding or stop menstruation altogether. However, women can have daily spotting for several months after insertion, and it can take up to three months for there to be a 90% decrease in bleeding with hormonal IUDs. Cramping can be treated with Nonstero ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fresh Frozen Plasma
Fresh frozen plasma (FFP) is a blood product made from the liquid portion of whole blood. It is used to treat conditions in which there are low blood clotting factors (INR > 1.5) or low levels of other blood proteins. It may also be used as the replacement fluid in plasma exchange. Using ABO compatible plasma, while not required, may be recommended. Use as a volume expander is not recommended. It is administered by intravenous, slow injection into a vein. Side effects include nausea and itchiness. Rarely there may be allergic reactions, blood clots, or infections. It is unclear if use during pregnancy or breastfeeding is safe for the baby. Greater care should be taken in people with protein S deficiency, IgA deficiency, or heart failure. Fresh frozen plasma is made up of a complex mixture of water, proteins, carbohydrates, fats, and vitamins. When frozen it lasts about a year. Plasma first came into medical use during the Second World War. It is on the WHO Model List of Essenti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Surgery
Surgery is a medical specialty that uses manual and instrumental techniques to diagnose or treat pathological conditions (e.g., trauma, disease, injury, malignancy), to alter bodily functions (e.g., malabsorption created by bariatric surgery such as gastric bypass), to reconstruct or alter aesthetics and appearance (cosmetic surgery), or to remove unwanted tissue (biology), tissues (body fat, glands, scars or skin tags) or foreign bodies. The act of performing surgery may be called a surgical procedure or surgical operation, or simply "surgery" or "operation". In this context, the verb "operate" means to perform surgery. The adjective surgical means pertaining to surgery; e.g. surgical instruments, operating theater, surgical facility or surgical nurse. Most surgical procedures are performed by a pair of operators: a surgeon who is the main operator performing the surgery, and a surgical assistant who provides in-procedure manual assistance during surgery. Modern surgical opera ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mixing Study
Mixing studies are tests performed on blood plasma of patients or test subjects to distinguish factor deficiencies from factor inhibitors, such as lupus anticoagulant, or specific factor inhibitors, such as antibodies directed against factor VIII. Mixing studies are screening tests widely performed in coagulation laboratories. The basic purpose of these tests is to determine the cause of prolongation of Prothrombin Time (PT), Partial Thromboplastin Time, or sometimes of thrombin time (TT). Mixing studies take advantage of the fact that factor levels that are 50 percent of normal should give a normal Prothrombin time (PT) or Partial thromboplastin time (PTT) result. Test method Fresh normal plasma has all the blood coagulation factors with normal levels. If the problem is a simple factor deficiency, mixing the patient plasma 1:1 with plasma that contains 100% of the normal factor level results in a level ≥50% in the mixture (say the patient has an activity of 0%; the average ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heparin
Heparin, also known as unfractionated heparin (UFH), is a medication and naturally occurring glycosaminoglycan. Heparin is a blood anticoagulant that increases the activity of antithrombin. It is used in the treatment of myocardial infarction, heart attacks and unstable angina. It can be given intravenously or by subcutaneous injection, injection under the skin. Its anticoagulant properties make it useful to prevent blood clotting in blood specimen test tubes and kidney dialysis machines. Common side effects include bleeding, pain at the injection site, and thrombocytopenia, low blood platelets. Serious side effects include heparin-induced thrombocytopenia. Greater care is needed in those with poor kidney function. Heparin is contraindicated for suspected cases of Post-vaccination embolic and thrombotic events, vaccine-induced pro-thrombotic immune thrombocytopenia (VIPIT) secondary to SARS-CoV-2 vaccination, as heparin may further increase the risk of bleeding in an anti-PF4 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lupus Anticoagulant
Lupus anticoagulant is an immunoglobulin that binds to phospholipids and proteins associated with the cell membrane. Its name is a partial misnomer, as it is actually a prothrombotic antibody ''in vivo''. The name derives from their properties ''in vitro'', as these antibodies increase coagulation times in laboratory tests such as the activated partial thromboplastin time (aPTT). Investigators speculate that the antibodies interfere with phospholipids used to induce in vitro coagulation. In vivo, the antibodies are thought to interact with platelet membrane phospholipids, increasing adhesion and aggregation of platelets, which accounts for the in vivo prothrombotic characteristics. The condition was first described by hematologist C. Lockard Conley in 1952. Terminology Both words in the term "lupus anticoagulant" can be misleading: * Most patients with a lupus anticoagulant do not actually have lupus erythematosus, and only a small proportion will proceed to develop this disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Haemophilia B
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). Haemophilia B was first recognized as a distinct disease entity in 1952. It is also known by the eponym ''Christmas disease'', named after Stephen Christmas, the first patient described with haemophilia B. In addition, the first report of its identification was published in the Christmas edition of the ''British Medical Journal''. Most individuals who have Hemophilia B and experience symptoms are men. The prevalence of Hemophilia B in the population is about one in 40,000; Hemophilia B represents about 15% of patients with hemophilia. Many female carriers of the disease have no symptoms. However, an estimated 10-25% of female carriers have mild symptoms; in rare cases, female carriers may have moderate or severe sy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Partial Thromboplastin Time
The partial thromboplastin time (PTT), also known as the activated partial thromboplastin time (aPTT or APTT), is a blood test that characterizes coagulation of the blood. A historical name for this measure is the Kaolin-cephalin clotting time (KCCT), reflecting kaolin and cephalin as materials historically used in the test. Apart from detecting abnormalities in blood clotting, partial thromboplastin time is also used to monitor the treatment effect of heparin, a widely prescribed drug that reduces blood's tendency to clot. The PTT measures the overall speed at which blood clots form by means of two consecutive series of biochemical reactions known as the ''intrinsic'' pathway and common pathway of coagulation. The PTT indirectly measures action of the following coagulation factors: I (fibrinogen), II (prothrombin), V (proaccelerin), VIII (anti-hemophilic factor), X (Stuart–Prower factor), XI (plasma thromboplastin antecedent), and XII (Hageman factor). The PTT is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
