A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).
Disorders caused by abnormalities in platelet count or function.
Surface glycoproteins on platelets which have a key role in hemostasis and thrombosis such as platelet adhesion and aggregation. Many of these are receptors.
An integrin beta subunit of approximately 85-kDa in size which has been found in INTEGRIN ALPHAIIB-containing and INTEGRIN ALPHAV-containing heterodimers. Integrin beta3 occurs as three alternatively spliced isoforms, designated beta3A-C.
Platelet membrane glycoprotein IIb is an integrin alpha subunit that heterodimerizes with INTEGRIN BETA3 to form PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX. It is synthesized as a single polypeptide chain which is then postranslationally cleaved and processed into two disulfide-linked subunits of approximately 18 and 110 kDa in size.
Platelet membrane glycoprotein complex important for platelet adhesion and aggregation. It is an integrin complex containing INTEGRIN ALPHAIIB and INTEGRIN BETA3 which recognizes the arginine-glycine-aspartic acid (RGD) sequence present on several adhesive proteins. As such, it is a receptor for FIBRINOGEN; VON WILLEBRAND FACTOR; FIBRONECTIN; VITRONECTIN; and THROMBOSPONDINS. A deficiency of GPIIb-IIIa results in GLANZMANN THROMBASTHENIA.
Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation.
I'm sorry for any confusion, but "Iraq" is a country located in the Middle East and it doesn't have a medical definition. If you have any questions related to medical topics or definitions, I'd be happy to try to help answer them!
An integrin alpha subunit that primarily combines with INTEGRIN BETA1 to form the INTEGRIN ALPHA2BETA1 heterodimer. It contains a domain which has homology to collagen-binding domains found in von Willebrand factor.
Immunoelectrophoresis in which a second electrophoretic transport is performed on the initially separated antigen fragments into an antibody-containing medium in a direction perpendicular to the first electrophoresis.
The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.
Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products.
Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms.
Retraction of a clot resulting from contraction of PLATELET pseudopods attached to FIBRIN strands. The retraction is dependent on the contractile protein thrombosthenin. Clot retraction is used as a measure of platelet function.
The magnitude of INBREEDING in humans.
The transfer of blood platelets from a donor to a recipient or reinfusion to the donor.
The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces.
Human alloantigens expressed only on platelets, specifically on platelet membrane glycoproteins. These platelet-specific antigens are immunogenic and can result in pathological reactions to transfusion therapy.
Conjugated protein-carbohydrate compounds including mucins, mucoid, and amyloid glycoproteins.
Electrophoresis applied to BLOOD PROTEINS.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Duration of blood flow after skin puncture. This test is used as a measure of capillary and platelet function.
I'm sorry for any confusion, but "Israel" is a country in the Middle East and does not have a medical definition. If you have any medical questions or terms you would like me to define, I'd be happy to help!
Activated form of factor VII. Factor VIIa activates factor X in the extrinsic pathway of blood coagulation.
Receptors such as INTEGRIN ALPHAVBETA3 that bind VITRONECTIN with high affinity and play a role in cell migration. They also bind FIBRINOGEN; VON WILLEBRAND FACTOR; osteopontin; and THROMBOSPONDINS.
A series of progressive, overlapping events, triggered by exposure of the PLATELETS to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
Bleeding or escape of blood from a vessel.
Identification of genetic carriers for a given trait.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

Recombinant factor VIIa is effective for bleeding and surgery in patients with Glanzmann thrombasthenia. (1/172)

Recombinant activated factor VII (rFVIIa) was found to be effective and safe in treating 24 bleeding episodes and to prevent bleeding during one bilateral herniorrhaphy in four children with Glanzmann thrombasthenia. One of the patients had alloantibodies to platelet membrane glycoprotein (GP) IIb/IIIa and was refractory to platelet transfusion. rFVIIa was administered at 89 to 116 microg/kg per injection every 2 hours, in association with antifibrinolytic drugs. Bleeding stopped in all cases, but platelet transfusion was required in one. Two bleeding episodes recurred 36 and 63 hours after discontinuation of rFVIIa, but were successfully treated with additional doses. No adverse effects of rFVIIa were observed. Although the number of patients is small, our study suggests that rFVIIa may be an alternative to platelet transfusions in patients with a severe congenital thrombocytopathy.  (+info)

A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3. (2/172)

Decreased expression of functional alphaIIbbeta3 complexes on the platelet surface produces Glanzmann thrombasthenia. We have identified mutations of alphaIIb(P145) in 3 ethnically distinct families affected by Glanzmann thrombasthenia. Affected Mennonite and Dutch patients were homozygous and doubly heterozygous, respectively, for a P(145)A substitution, whereas a Chinese patient was doubly heterozygous for a P(145)L substitution. The mutations affect expression levels of surface alphaIIbbeta3 receptors on their platelets, which was confirmed by co-transfection of alphaIIb(P145A) and beta3 cDNA constructs in COS-1 cells. Each mutation also impaired the ability of alphaIIbbeta3 on affected platelets to interact with ligands. Moreover, when alphaIIb(P145A) and beta3 were stably coexpressed in Chinese hamster ovary cells, alphaIIbbeta3 was readily detected on the cell surface, but the cells were unable to adhere to immobilized fibrinogen or to bind soluble fluorescein isothiocyanate-fibrinogen after alphaIIbbeta3 activation by the activating monoclonal antibody PT25-2. Nonetheless, incubating affected platelets with the peptide LSARLAF, which binds to alphaIIb, induced PF4 secretion, indicating that the mutant alphaIIbbeta3 retained the ability to mediate outside-in signaling. These studies indicate that mutations involving alphaIIb(P145 )impair surface expression of alphaIIbbeta3 and that the alphaIIb(P145A) mutation abrogates ligand binding to the activated integrin. A comparative analysis of other alphaIIb mutations with a similar phenotype suggests that these mutations may cluster into a single region on the surface of the alphaIIb and may define a domain influencing ligand binding. (Blood. 2000;95:180188)  (+info)

Sequential regulation of the small GTPase Rap1 in human platelets. (3/172)

Rap1, a small GTPase of the Ras family, is ubiquitously expressed and particularly abundant in platelets. Previously we have shown that Rap1 is rapidly activated after stimulation of human platelets with alpha-thrombin. For this activation, a phospholipase C-mediated increase in intracellular calcium is necessary and sufficient. Here we show that thrombin induces a second phase of Rap1 activation, which is mediated by protein kinase C (PKC). Indeed, the PKC activator phorbol 12-myristate 13-acetate induced Rap1 activation, whereas the PKC-inhibitor bisindolylmaleimide inhibited the second, but not the first, phase of Rap1 activation. Activation of the integrin alpha(IIb)beta(3), a downstream target of PKC, with monoclonal antibody LIBS-6 also induced Rap1 activation. However, studies with alpha(IIb)beta(3)-deficient platelets from patients with Glanzmann's thrombasthenia type 1 show that alpha(IIb)beta(3) is not essential for Rap1 activation. Interestingly, induction of platelet aggregation by thrombin resulted in the inhibition of Rap1 activation. This downregulation correlated with the translocation of Rap1 to the Triton X-100-insoluble, cytoskeletal fraction. We conclude that in platelets, alpha-thrombin induces Rap1 activation first by a calcium-mediated pathway independently of PKC and then by a second activation phase mediated by PKC and, in part, integrin alpha(IIb)beta(3). Inactivation of Rap1 is mediated by an aggregation-dependent process that correlates with the translocation of Rap1 to the cytoskeletal fraction.  (+info)

Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization. (4/172)

Glanzmann's thrombasthenia is an autosomal recessive disorder characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein IIb and IIIa. Usually, the disease leads to mild hemorrhage but sometimes bleeding is severe enough to be life-threatening. We report the case of a 16-year-old girl, presenting with very severe type 1 Glanzmann's thrombasthenia, successfully treated with an HLA-identical sibling bone marrow transplant (BMT). We also update the clinical and laboratory data of her brother, who had received a BMT 16 years ago for the same disease. In the light of these two cases and two others published in the literature, we discuss the indications for BMT from HLA-identical sibling donors in Glanzmann's thrombasthenia. Alloimmunization against the missing platelet GPIIb/IIIa complex and severity of bleeding episodes may constitute sufficient criteria for allogeneic BMT after careful assessment of the risk-benefit of such a procedure, although this remains exceptional in this disease. Bone Marrow Transplantation (2000) 25, 327-330.  (+info)

A revised model of platelet aggregation. (5/172)

In this study we have examined the mechanism of platelet aggregation under physiological flow conditions using an in vitro flow-based platelet aggregation assay and an in vivo rat thrombosis model. Our studies demonstrate an unexpected complexity to the platelet aggregation process in which platelets in flowing blood continuously tether, translocate, and/or detach from the luminal surface of a growing platelet thrombus at both arterial and venous shear rates. Studies of platelets congenitally deficient in von Willebrand factor (vWf) or integrin alpha(IIb)beta(3) demonstrated a key role for platelet vWf in mediating platelet tethering and translocation, whereas integrin alpha(IIb)beta(3) mediated cell arrest. Platelet aggregation under flow appears to be a multistep process involving: (a) exposure of vWf on the surface of immobilized platelets; (b) a reversible phase of platelet aggregation mediated by the binding of GPIbalpha on the surface of free-flowing platelets to vWf on the surface of immobilized platelets; and (c) an irreversible phase of aggregation dependent on integrin alpha(IIb)beta(3). Studies of platelet thrombus formation in vivo demonstrate that this multistep adhesion mechanism is indispensable for platelet aggregation in arterioles and also appears to promote platelet aggregate formation in venules. Together, our studies demonstrate an important role for platelet vWf in initiating the platelet aggregation process under flow and challenge the currently accepted view that the vWf-GPIbalpha interaction is exclusively involved in initiating platelet aggregation at elevated shear rates.  (+info)

Micromolar Ca2+ concentrations are essential for Mg2+-dependent binding of collagen by the integrin alpha 2beta 1 in human platelets. (6/172)

Integrin receptor alpha(2)beta(1) requires micromolar Ca(2+) to bind to collagen and to the peptide GPC(GPP)(5)GFOGER(GPP)(5)GPC (denoted GFOGER-GPP, where O represents hydroxyproline), which contains the minimum recognition sequence for the collagen-binding alpha(2) I-domain (Knight, C. G., Morton, L. F., Peachey, A. R., Tuckwell, D. S., Farndale, R. W., and Barnes, M. J. (2000) J. Biol. Chem. 275, 35-40). Platelet adhesion to these ligands is completely dependent on alpha(2)beta(1) in the presence of 2 mm Mg(2+). However, we show here that this interaction was abolished in the presence of 25 microm EGTA. Adhesion of Glanzmann's thrombasthenic platelets, which lack the fibrinogen receptor alpha(IIb)beta(3), was also inhibited by micromolar EGTA. Mg(2+)-dependent adhesion of platelets was restored by the addition of 10 microm Ca(2+), but millimolar Ca(2+) was inhibitory. Binding of isolated alpha(2)beta(1) to GFOGER-GPP was 70% inhibited by 50 microm EGTA but, as with intact platelets, was fully restored by the addition of micromolar Ca(2+). 2 mm Ca(2+) did not inhibit binding of isolated alpha(2)beta(1) to collagen or to GFOGER-GPP. Binding of recombinant alpha(2) I-domain was not inhibited by EGTA, nor did millimolar Ca(2+) inhibit binding. Our data suggest that high affinity Ca(2+) binding to alpha(2)beta(1), outside the I-domain, is essential for adhesion to collagen. This is the first demonstration of a Ca(2+) requirement in alpha(2)beta(1) function.  (+info)

Megakaryocyte-targeted synthesis of the integrin beta(3)-subunit results in the phenotypic correction of Glanzmann thrombasthenia. (7/172)

Glanzmann thrombasthenia is an inherited bleeding disorder characterized by qualitative or quantitative defects of the platelet-specific integrin, alphaIIbbeta(3). As a result, alphaIIbbeta(3) cannot be activated and cannot bind to fibrinogen, leading to a loss of platelet aggregation. Thrombasthenia is clinically characterized by mucocutaneous hemorrhage with episodes of intracranial and gastrointestinal bleeding. To develop methods for gene therapy of Glanzmann thrombasthenia, a murine leukemia virus (MuLV)-derived vector, -889Pl(A2)beta(3), was transduced into peripheral blood CD34(+) cells from 2 patients with thrombasthenia with defects in the beta(3) gene. The human alphaIIb promoter was used in this vector to drive megakaryocyte-targeted expression of the wild-type beta(3) subunit. Proviral DNA and alphaIIbbeta(3) biosynthesis were detected after in vitro differentiation of transduced thrombasthenic CD34(+) cells with megakaryocyte growth and development factor. Flow cytometric analysis of transduced patient samples indicated that 19% of megakaryocyte progeny expressed alphaIIbbeta(3) on the surface at 34% of normal receptor levels. Treatment of transduced megakaryocytes with a combination of agonists including epinephrine and the thrombin receptor-activating peptide induced the alphaIIbbeta(3) complex to form an activated conformation capable of binding fibrinogen as measured by PAC-1 antibody binding. Transduced cells retracted a fibrin clot in vitro similar to megakaryocytes derived from a normal nonthrombasthenic individual. These results demonstrate ex vivo phenotypic correction of Glanzmann thrombasthenia and support the potential use of hematopoietic CD34(+) cells as targets for alphaIIb promoter-driven MuLV vectors for gene therapy of platelet disorders. (Blood. 2000;95:3645-3651)  (+info)

A Leu262Pro mutation in the integrin beta(3) subunit results in an alpha(IIb)-beta(3) complex that binds fibrin but not fibrinogen. (8/172)

Platelet retraction of a fibrin clot is mediated by the platelet fibrinogen receptor, alpha(IIb)beta(3). In certain forms of the inherited platelet disorder, Glanzmann thrombasthenia (GT), mutant alpha(IIb)beta(3) may interact normally with fibrin yet fail to support fibrinogen-dependent aggregation. We describe a patient (LD) with such a form of GT. Platelets from LD supported normal clot retraction but failed to bind fibrinogen. Platelet analysis using flow cytometry and immunoblotting showed reduced but clearly detectable alpha(IIb)beta(3), findings consistent with type II GT. Genotyping of LD revealed 2 novel beta(3) mutations: a deletion of nucleotides 867 to 868, resulting in a premature stop codon at amino acid residue 267, and a T883C missense mutation, resulting in a leucine (Leu) 262-to-proline (Pro) substitution. Leu262 is highly conserved among beta integrin subunits and lies within an intrachain loop implicated in subunit association. Leu262Probeta(3) cotransfected with wild-type alpha(IIb) into COS-7 cells showed delayed intracellular maturation and reduced surface expression of easily dissociable complexes. In human embryonic kidney 293 cells, Leu262Probeta(3) formed a complex with endogenous a(v) and retracted fibrin clots similarly to wild-type beta(3). The same cells, however, were unable to bind immobilized fibrinogen. The molecular requirements for alpha(IIb)beta(3) to interact with fibrin compared with fibrinogen, therefore, appear to differ. The region surrounding beta(3) Leu262 may maintain beta(3) in a fibrinogen-binding, competent form, but it appears not to be required for receptor interactions with fibrin.  (+info)

Thrombasthenia is a rare bleeding disorder that is inherited and caused by a deficiency or dysfunction of the platelet glycoprotein IIb/IIIa complex. This complex plays a crucial role in platelet aggregation, which is necessary for blood clotting. When it's defective or absent, platelets are unable to aggregate properly, leading to prolonged bleeding times and symptoms such as easy bruising, nosebleeds, and excessive bleeding following injury or surgery. There are two main types of thrombasthenia: Glanzmann's thrombasthenia and pseudo-thrombasthenia.

Blood platelet disorders are conditions that affect the number and/or function of platelets, which are small blood cells that help your body form clots to stop bleeding. Normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. A lower-than-normal platelet count is called thrombocytopenia, while a higher-than-normal platelet count is called thrombocytosis.

There are several types of platelet disorders, including:

1. Immune thrombocytopenia (ITP): A condition in which the immune system mistakenly attacks and destroys platelets, leading to a low platelet count. ITP can be acute (lasting less than six months) or chronic (lasting longer than six months).
2. Thrombotic thrombocytopenic purpura (TTP): A rare but serious condition that causes blood clots to form in small blood vessels throughout the body, leading to a low platelet count, anemia, and other symptoms.
3. Hemolytic uremic syndrome (HUS): A condition that is often caused by a bacterial infection, which can lead to the formation of blood clots in the small blood vessels of the kidneys, resulting in kidney damage and a low platelet count.
4. Hereditary platelet disorders: Some people inherit genetic mutations that can affect the number or function of their platelets, leading to bleeding disorders such as von Willebrand disease or Bernard-Soulier syndrome.
5. Medication-induced thrombocytopenia: Certain medications can cause a decrease in platelet count as a side effect.
6. Platelet dysfunction disorders: Some conditions can affect the ability of platelets to function properly, leading to bleeding disorders such as von Willebrand disease or storage pool deficiency.

Symptoms of platelet disorders may include easy bruising, prolonged bleeding from cuts or injuries, nosebleeds, blood in urine or stools, and in severe cases, internal bleeding. Treatment for platelet disorders depends on the underlying cause and may include medications, surgery, or other therapies.

Platelet membrane glycoproteins are specialized proteins found on the surface of platelets, which are small blood cells responsible for clotting. These glycoproteins play crucial roles in various processes related to hemostasis and thrombosis, including platelet adhesion, activation, and aggregation.

There are several key platelet membrane glycoproteins, such as:

1. Glycoprotein (GP) Ia/IIa (also known as integrin α2β1): This glycoprotein mediates the binding of platelets to collagen fibers in the extracellular matrix, facilitating platelet adhesion and activation.
2. GP IIb/IIIa (also known as integrin αIIbβ3): This is the most abundant glycoprotein on the platelet surface and functions as a receptor for fibrinogen, von Willebrand factor, and other adhesive proteins. Upon activation, GP IIb/IIIa undergoes conformational changes that enable it to bind these ligands, leading to platelet aggregation and clot formation.
3. GPIb-IX-V: This glycoprotein complex is involved in the initial tethering and adhesion of platelets to von Willebrand factor (vWF) in damaged blood vessels. It consists of four subunits: GPIbα, GPIbβ, GPIX, and GPV.
4. GPVI: This glycoprotein is essential for platelet activation upon contact with collagen. It associates with the Fc receptor γ-chain (FcRγ) to form a signaling complex that triggers intracellular signaling pathways, leading to platelet activation and aggregation.

Abnormalities in these platelet membrane glycoproteins can lead to bleeding disorders or thrombotic conditions. For example, mutations in GPIIb/IIIa can result in Glanzmann's thrombasthenia, a severe bleeding disorder characterized by impaired platelet aggregation. On the other hand, increased expression or activation of these glycoproteins may contribute to the development of arterial thrombosis and cardiovascular diseases.

Integrin β3 is a subunit of certain integrin heterodimers, which are transmembrane receptors that mediate cell-cell and cell-extracellular matrix (ECM) adhesion. Integrin β3 combines with either integrin αv (to form the integrin αvβ3) or integrin αIIb (to form the integrin αIIbβ3). These integrins are involved in various cellular processes, including platelet aggregation, angiogenesis, and tumor metastasis.

Integrin αIIbβ3 is primarily expressed on platelets and mediates platelet aggregation by binding to fibrinogen, von Willebrand factor, and other adhesive proteins in the ECM. Integrin αvβ3 is widely expressed in various cell types and participates in diverse functions such as cell migration, proliferation, differentiation, and survival. It binds to a variety of ECM proteins, including fibronectin, vitronectin, and osteopontin, as well as to soluble ligands like vascular endothelial growth factor (VEGF) and transforming growth factor-β (TGF-β).

Dysregulation of integrin β3 has been implicated in several pathological conditions, such as thrombosis, atherosclerosis, tumor metastasis, and inflammatory diseases.

Glycoprotein IIb (also known as integrin αIIbβ3 or CD41/CD61) is a type of protein found on the surface of platelets, which are small cell fragments involved in blood clotting. This glycoprotein plays a crucial role in the final pathway of platelet activation and aggregation, which ultimately leads to the formation of a clot to stop bleeding.

More specifically, Glycoprotein IIb is responsible for binding fibrinogen, von Willebrand factor, and other adhesive proteins in the blood, allowing platelets to bind together and form a clot. Mutations or defects in this glycoprotein can lead to bleeding disorders such as Glanzmann thrombasthenia, which is characterized by abnormal platelet function and excessive bleeding.

The platelet glycoprotein GPIIb-IIIa complex, also known as integrin αIIbβ3 or CD41/CD61, is a heterodimeric transmembrane receptor found on the surface of platelets and megakaryocytes. It plays a crucial role in platelet aggregation and thrombus formation during hemostasis and pathological conditions such as arterial thrombosis.

The GPIIb-IIIa complex is composed of two non-covalently associated subunits, GPIIb (αIIb or CD41) and IIIa (β3 or CD61). Upon platelet activation by various agonists like ADP, thrombin, or collagen, the GPIIb-IIIa complex undergoes a conformational change that allows it to bind fibrinogen, von Willebrand factor, and other adhesive proteins. This binding event leads to platelet aggregation and the formation of a hemostatic plug or pathological thrombus.

Inhibition of the GPIIb-IIIa complex has been a target for antiplatelet therapy in the prevention and treatment of arterial thrombosis, such as myocardial infarction and stroke. Several pharmacological agents, including monoclonal antibodies and small molecule antagonists, have been developed to block this complex and reduce platelet aggregation.

Blood platelets, also known as thrombocytes, are small, colorless cell fragments in our blood that play an essential role in normal blood clotting. They are formed in the bone marrow from large cells called megakaryocytes and circulate in the blood in an inactive state until they are needed to help stop bleeding. When a blood vessel is damaged, platelets become activated and change shape, releasing chemicals that attract more platelets to the site of injury. These activated platelets then stick together to form a plug, or clot, that seals the wound and prevents further blood loss. In addition to their role in clotting, platelets also help to promote healing by releasing growth factors that stimulate the growth of new tissue.

I'm sorry for any confusion, but "Iraq" is not a medical term. It is a country located in the Middle East. If you have any medical questions or terms you would like defined, I would be happy to help!

Integrin alpha2, also known as CD49b or ITGA2, is a type I transmembrane glycoprotein that forms a heterodimer with integrin beta1 to create the collagen receptor very late antigen-2 (VLA-2) or α2β1 integrin. This integrin plays crucial roles in various cellular processes such as adhesion, migration, and signaling during embryonic development, hemostasis, and tissue repair. It specifically binds to collagen types I, II, and IV, contributing to the regulation of cell-matrix interactions in several tissues, including bone, cartilage, and vascular systems. Integrin alpha2 also participates in immune responses by mediating lymphocyte adhesion and activation.

Two-dimensional immunoelectrophoresis (2DE) is a specialized laboratory technique used in the field of clinical pathology and immunology. This technique is a refined version of traditional immunoelectrophoresis that adds an additional electrophoretic separation step, enhancing its resolution and allowing for more detailed analysis of complex protein mixtures.

In two-dimensional immunoelectrophoresis, proteins are first separated based on their isoelectric points (pI) in the initial dimension using isoelectric focusing (IEF). This process involves applying an electric field to a protein mixture contained within a gel matrix, where proteins will migrate and stop migrating once they reach the pH that matches their own isoelectric point.

Following IEF, the separated proteins are then subjected to a second electrophoretic separation in the perpendicular direction (second dimension) based on their molecular weights using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). SDS is a negatively charged molecule that binds to proteins, giving them a uniform negative charge and allowing for separation based solely on size.

Once the two-dimensional separation is complete, the gel is then overlaid with specific antisera to detect and identify proteins of interest. The resulting precipitin arcs formed at the intersection of the antibody and antigen are compared to known standards or patterns to determine the identity and quantity of the separated proteins.

Two-dimensional immunoelectrophoresis is particularly useful in identifying and quantifying proteins in complex mixtures, such as those found in body fluids like serum, urine, or cerebrospinal fluid (CSF). It can be applied to various clinical scenarios, including diagnosis and monitoring of monoclonal gammopathies, autoimmune disorders, and certain infectious diseases.

Platelet aggregation is the clumping together of platelets (thrombocytes) in the blood, which is an essential step in the process of hemostasis (the stopping of bleeding) after injury to a blood vessel. When the inner lining of a blood vessel is damaged, exposure of subendothelial collagen and tissue factor triggers platelet activation. Activated platelets change shape, become sticky, and release the contents of their granules, which include ADP (adenosine diphosphate).

ADP then acts as a chemical mediator to attract and bind additional platelets to the site of injury, leading to platelet aggregation. This forms a plug that seals the damaged vessel and prevents further blood loss. Platelet aggregation is also a crucial component in the formation of blood clots (thrombosis) within blood vessels, which can have pathological consequences such as heart attacks and strokes if they obstruct blood flow to vital organs.

Fibrinogen is a soluble protein present in plasma, synthesized by the liver. It plays an essential role in blood coagulation. When an injury occurs, fibrinogen gets converted into insoluble fibrin by the action of thrombin, forming a fibrin clot that helps to stop bleeding from the injured site. Therefore, fibrinogen is crucial for hemostasis, which is the process of stopping bleeding and starting the healing process after an injury.

Thrombocytopenic purpura (TTP) is a rare blood disorder characterized by the abnormal breakdown of platelets, leading to a low platelet count (thrombocytopenia). Platelets are small blood cells that help your body form clots to stop bleeding. A low platelet count can cause purple spots on the skin (purpura) and easy or excessive bruising or bleeding.

TTP is caused by the formation of blood clots in small blood vessels throughout the body, which can lead to serious complications such as damage to the heart, brain, and kidneys if left untreated. The condition can be acute (sudden onset) or chronic (long-term).

TTP is often caused by an autoimmune response where the body's immune system produces antibodies that attack and destroy a protein called ADAMTS13, which is necessary for breaking down large von Willebrand factor proteins in the blood. Without enough ADAMTS13, these proteins can form clots and deplete platelets, leading to thrombocytopenia and purpura.

Treatment typically involves plasma exchange therapy to replace the missing or nonfunctional ADAMTS13 protein and suppress the immune system's production of antibodies. Corticosteroids, immunosuppressive drugs, and rituximab may also be used in treatment.

Clot retraction is the process that occurs during blood clotting where the platelets in the blood contract and pull together the edges of the clot, causing it to shrink. This process helps to seal off injured blood vessels and prevent further bleeding. Clot retraction also aids in the healing process by helping to remove damaged tissue and debris from the wound site. The proteins in the blood, called fibrin, form a mesh that traps red and white blood cells and platelets, creating a clot. As the platelets contract, they pull on the fibrin mesh, causing it to tighten and the clot to shrink. This process is an important part of the body's natural healing response to injury.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

A platelet transfusion is the process of medically administering platelets, which are small blood cells that help your body form clots to stop bleeding. Platelet transfusions are often given to patients with low platelet counts or dysfunctional platelets due to various reasons such as chemotherapy, bone marrow transplantation, disseminated intravascular coagulation (DIC), and other medical conditions leading to increased consumption or destruction of platelets. This procedure helps to prevent or treat bleeding complications in these patients. It's important to note that platelet transfusions should be given under the supervision of a healthcare professional, taking into account the patient's clinical condition, platelet count, and potential risks associated with transfusion reactions.

Platelet adhesiveness refers to the ability of platelets, which are small blood cells that help your body form clots to prevent excessive bleeding, to stick to other cells or surfaces. This process is crucial in hemostasis, the process of stopping bleeding after injury to a blood vessel.

When the endothelium (the lining of blood vessels) is damaged, subendothelial structures are exposed, which can trigger platelet adhesion. Platelets then change shape and release chemical signals that cause other platelets to clump together, forming a platelet plug. This plug helps to seal the damaged vessel and prevent further bleeding.

Platelet adhesiveness is influenced by several factors, including the presence of von Willebrand factor (vWF), a protein in the blood that helps platelets bind to damaged vessels, and the expression of glycoprotein receptors on the surface of platelets. Abnormalities in platelet adhesiveness can lead to bleeding disorders or thrombotic conditions.

Human platelet antigens (HPAs) are a group of cell surface proteins found on platelets and megakaryocytes, which are the precursor cells that produce platelets. These antigens can stimulate an immune response when they are recognized as foreign by the body's immune system, leading to the production of antibodies against them.

HPAs are classified into several different systems based on their genetic inheritance and immunological properties. The most well-known HPA systems are HPA-1, HPA-2, HPA-3, HPA-4, and HPA-5. Each system consists of a pair of alleles, one inherited from each parent, that code for different variants of the antigen.

HPAs can play a role in the development of certain bleeding disorders, such as neonatal alloimmune thrombocytopenia (NAIT) and post-transfusion purpura (PTP). NAIT occurs when a pregnant woman develops antibodies against her fetus's HPAs, leading to low platelet counts and bleeding in the newborn. PTP can occur after a transfusion of blood products containing HPAs that are not compatible with the recipient's HPAs, leading to an immune response and destruction of the transfused platelets.

It is important for healthcare providers to consider HPA compatibility when performing platelet transfusions or managing pregnant women at risk of developing antibodies against HPAs.

Glycoproteins are complex proteins that contain oligosaccharide chains (glycans) covalently attached to their polypeptide backbone. These glycans are linked to the protein through asparagine residues (N-linked) or serine/threonine residues (O-linked). Glycoproteins play crucial roles in various biological processes, including cell recognition, cell-cell interactions, cell adhesion, and signal transduction. They are widely distributed in nature and can be found on the outer surface of cell membranes, in extracellular fluids, and as components of the extracellular matrix. The structure and composition of glycoproteins can vary significantly depending on their function and location within an organism.

Blood protein electrophoresis (BPE) is a laboratory test that separates and measures the different proteins in the blood, such as albumin, alpha-1 globulins, alpha-2 globulins, beta globulins, and gamma globulins. This test is often used to help diagnose or monitor conditions related to abnormal protein levels, such as multiple myeloma, macroglobulinemia, and other plasma cell disorders.

In this test, a sample of the patient's blood is placed on a special gel and an electric current is applied. The proteins in the blood migrate through the gel based on their electrical charge and size, creating bands that can be visualized and measured. By comparing the band patterns to reference ranges, doctors can identify any abnormal protein levels or ratios, which may indicate underlying medical conditions.

It's important to note that while BPE is a useful diagnostic tool, it should be interpreted in conjunction with other clinical findings and laboratory tests for accurate diagnosis and management of the patient's condition.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

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.

I'm sorry for any confusion, but "Israel" is not a medical term. It is a country located in the Middle East. If you have any medical questions or terms you would like defined, I would be happy to help!

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.

Vitronectin receptors, also known as integrin αvβ3 or integrin avb3, are a type of cell surface receptor that bind to the protein vitronectin. These receptors are heterodimeric transmembrane proteins composed of αv and β3 subunits. They play important roles in various biological processes including cell adhesion, migration, proliferation, and survival. Vitronectin receptors are widely expressed in many different cell types, including endothelial cells, smooth muscle cells, and platelets. In addition to vitronectin, these receptors can also bind to other extracellular matrix proteins such as fibronectin, von Willebrand factor, and osteopontin. They are also involved in the regulation of angiogenesis, wound healing, and bone metabolism.

Platelet activation is the process by which platelets (also known as thrombocytes) become biologically active and change from their inactive discoid shape to a spherical shape with pseudopodia, resulting in the release of chemical mediators that are involved in hemostasis and thrombosis. This process is initiated by various stimuli such as exposure to subendothelial collagen, von Willebrand factor, or thrombin during vascular injury, leading to platelet aggregation and the formation of a platelet plug to stop bleeding. Platelet activation also plays a role in inflammation, immune response, and wound healing.

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.

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.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

... is an abnormality of the platelets. It is an extremely rare coagulopathy (bleeding disorder due to a ... "Glanzmann thrombasthenia" at Dorland's Medical Dictionary Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U ... Glanzmann's thrombasthenia is associated with abnormal integrin αIIbβ3, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa), ... Nurden, A. T.; Fiore, M.; Nurden, P.; Pillois, X. (2011). "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with ...
SLC12A3 Glanzmann thrombasthenia, type A; 273800; ITGA2B Glaucoma 1, open angle, 1O; 613100; NTF4 Glaucoma 1, open angle, E; ...
"Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive ?-N- ...
Mutations that interfere with this role result in thrombasthenia. At least 38 disease-causing mutations in this gene have been ...
Deficiency in the IIb / IIIa complex is described as Glanzmann's thrombasthenia. Patients completely lack the ability to ...
Rare examples are Bernard-Soulier syndrome, Wiskott-Aldrich syndrome and Glanzmann's thrombasthenia. Gene therapy treatments ...
Unlike classical Kostmann disease, SCN5 also has defective platelet aggregation (thrombasthenia) and myelofibrosis. This type ...
Aggregation in TRAPtest may be reduced or absent in Glanzmann's thrombasthenia, where GPIIb/IIIa receptors are few or absent, ... COLtest is sensitive to inhibition of COX1 and GPIIb/IIIa and to Glanzmann's thrombasthenia. Ristocetin forms complexes with ... "Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry". ... as seen in Glanzmann's thrombasthenia, will reduce platelet aggregation in response to arachidonic acid. Collagen is added to ...
Gray platelet syndrome Glanzmann's thrombasthenia von Willebrand disease May-Hegglin anomaly Lanza F (2006). "Bernard-Soulier ... The differential diagnosis for Bernard-Soulier syndrome includes both Glanzmann thrombasthenia and pediatric Von Willebrand ...
In LAD3, the immune defects are supplemented by a Glanzmann thrombasthenia-like bleeding tendency. LAD was first recognized as ...
"Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel ... defect Decreased cyclooxygenase activity Platelet storage pool deficiency Disorders of aggregation Glanzmann's thrombasthenia ...
... "β3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival". Journal of ...
Thus, failure to retract can be a sign of thrombocytopenia or a rare condition called thrombasthenia. Blood clot prevention can ...
A flashback reveals that Pughazh has Glanzmann's thrombasthenia, which prevents his blood from clotting following any injury. ...
"Nasal Packing with Strips of Cured Pork as Treatment for Uncontrollable Epistaxis in a Patient with Glanzmann Thrombasthenia". ...
... unlike Glanzmann's thrombasthenia. The bleeding time (Duke) was greatly prolonged, extending to more than 2 hours in some cases ...
... and Glanzmann's thrombasthenia.[citation needed] Aspirin and other cyclooxygenase inhibitors can significantly prolong bleeding ...
However, with some more severe disorders such as Glanzmann thrombasthenia, transfusions with large amount of platelets may be ...
... and Glanzmann's thrombasthenia with refractoriness to platelet transfusions, with or without antibodies to platelets and for ... and people with Glanzmann's thrombasthenia. This treatment results in activation of the extrinsic pathway of blood coagulation ...
The prevention of the beta-3 activation is specifically related to LAD-3, causing Glanzmann's thrombasthenia symptoms, a ...
... a calculated parameter for diagnosis of thyroid disorders Glanzmann's thrombasthenia, a rare medical condition Giant trevally, ...
Examples of congenital platelet disorders are Glanzmann's thrombasthenia, Bernard-Soulier syndrome (abnormal glycoprotein Ib-IX ...
Rivera type Thoracolaryngopelvic dysplasia Thoracopelvic dysostosis Thost-Unna palmoplantar keratoderma Thrombasthenia ...
ETV6 related thrombocytopenia Fanconi anemia Filaminopathies A FYB related thrombocytopenia Glanzmann's thrombasthenia GNE ...
... or in bleeding disorders such as hemophilia and Glanzmann thrombasthenia. Other rare causes of hemothorax include ...
... thrombasthenia MeSH C16.320.099.900 - Von Willebrand disease MeSH C16.320.099.970 - Wiskott-Aldrich syndrome MeSH C16.320. ...
... thrombasthenia), or an increase in the number of platelets (thrombocytosis). There are disorders that reduce the number of ...
... thrombasthenia MeSH C15.378.100.425.900 - von willebrand disease MeSH C15.378.100.425.970 - wiskott-aldrich syndrome MeSH ... thrombasthenia MeSH C15.378.140.855 - thrombocytopenia MeSH C15.378.140.855.313 - hemolytic-uremic syndrome MeSH C15.378. ... thrombasthenia MeSH C15.378.463.825 - thrombocythemia, hemorrhagic MeSH C15.378.463.835 - vascular hemostatic disorders MeSH ...
Gitelman Glanzmann's thrombasthenia - Eduard Glanzmann Goodpasture's syndrome - Ernest Goodpasture Goldenhar syndrome - Maurice ...
... fibrosis Gingivitis Gyrate atrophy of the choroid and retina Gitelman syndrome Gittings syndrome Glanzmann thrombasthenia Glass ...
Glanzmanns thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy (bleeding disorder due to a ... "Glanzmann thrombasthenia" at Dorlands Medical Dictionary Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U ... Glanzmanns thrombasthenia is associated with abnormal integrin αIIbβ3, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa), ... Nurden, A. T.; Fiore, M.; Nurden, P.; Pillois, X. (2011). "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with ...
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth ... Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. These genes provide instructions for making the two parts ... Some people with Glanzmann thrombasthenia do not have an identified mutation in either the ITGA2B or ITGB3 gene; the cause of ... Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain ...
... initially described thrombasthenia in 1918 when he noted purpuric bleeding in patients with normal platelet counts. The term ... Management of thrombasthenia. Refractory bleeding in individuals with thrombasthenia requires the transfusion of normal ... 1] The term thrombasthenia means weak platelets. Glanzmann thrombasthenia (GT) is one of several inherited disorders of ... encoded search term (Thrombasthenia) and Thrombasthenia What to Read Next on Medscape ...
Stop Nosebleeds With Pork Strips? Improbable Remedy For People With Glanzmann Thrombasthenia. Sep 19, 2014 04:20 PM. By ... Scientists discovered a whacky remedy for severe nosebleeds caused by a condition known as Glanzmann thrombasthenia - stuffing ... "Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia." ... life-threatening hemorrhaging disorder called Glanzmann thrombasthenia. Patients who have the disorder suffer from improper ...
Glanzmann thrombasthenia is a genetic platelet disorder in which the platelet have qualitative or quantitative deficiencies of ... encoded search term (Glanzmann Thrombasthenia) and Glanzmann Thrombasthenia What to Read Next on Medscape ... Glanzmann Thrombasthenia. Updated: Mar 18, 2021 * Author: Zonera Ashraf Ali, MBBS; Chief Editor: Srikanth Nagalla, MD, MS, FACP ... Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin ß1 and ß3 in platelet adhesion to ...
DDAVP® is not an effective treatment for people with GT. Birth control pills may help some women with GT who have very heavy periods.. For severe bleeding, people with GT may be given platelets from a blood donor. A problem can happen because the donors platelets will have GPIIb IIIa and the person with GTs platelets do not. This difference can cause the person with GTs immune system to make antibodies against donated platelets. If this occurs, future transfusions with platelets may not work because the antibodies will quickly destroy the donated platelets. To help prevent this, whenever possible people with GT should only get platelets that have been filtered to remove white blood cells (leukocytes) and that have been HLA matched.. Recombinant factor VIIa (NovoSeven®) has been used to treat severe bleeding in people with GT.. ...
... initially described thrombasthenia in 1918 when he noted purpuric bleeding in patients with normal platelet counts. The term ... encoded search term (Thrombasthenia) and Thrombasthenia What to Read Next on Medscape ... Thrombasthenia Differential Diagnoses. Updated: Jun 04, 2013 * Author: Vivian Y Chang, MD, MS; Chief Editor: Robert J Arceci, ... Glanzmann thrombasthenia in children from Argentina. J Pediatr Hematol Oncol. 1996 Feb. 18(1):23-8. [QxMD MEDLINE Link]. ...
Glanzmann thrombasthenia. Glanzmann thrombasthenia results from a deficiency of the GP IIb/IIIa complex. Platelets do not ... Glanzmann thrombasthenia, Bernard-Soulier syndrome, and most mild von Willebrand diseases are associated with a prolonged ... Among congenital bleeding disorders involving platelets, type III von Willebrand disease and type I Glanzmann thrombasthenia ... Molecular abnormalities in Glanzmanns thrombasthenia, Bernard-Soulier syndrome, and platelet-type von Willebrands disease. ...
Glanzmann thrombasthenia. At least 130 mutations in the ITGB3 gene have been found to cause Glanzmann thrombasthenia, which is ... Unlike Glanzmann thrombasthenia, this disorder results from a mutation in only one copy of the ITGB3 gene in each cell, and the ... Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on ... Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37(5):268-277. doi: ...
Glanzmann thrombasthenia is a genetic platelet disorder in which the platelet have qualitative or quantitative deficiencies of ... encoded search term (Glanzmann Thrombasthenia) and Glanzmann Thrombasthenia What to Read Next on Medscape ... Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin ß1 and ß3 in platelet adhesion to ... Glanzmann thrombasthenia is rare and it is inherited in an autosomal recessive pattern. The disorder was first described by Dr ...
Navigate the complex world of Glanzmanns Thrombasthenia with our comprehensive glossary. Understand key terms and concepts ... Finding a Cure for Glanzmanns Thrombasthenia, an inherited blood disorder. ... Glanzmanns thrombasthenia. A very rare bleeding disorder in which platelets are missing glycoprotein IIb/IIIa, so fibrinogen ... If youre new to Glanzmanns thrombasthenia, there might be some lingo you dont know just yet. Heres the official GRF ...
Scottish DeerhoundITGA2BCardiovascular system
Finding a Cure for Glanzmanns Thrombasthenia, an inherited blood disorder. ... Whether you are newly diagnosed with Glanzmanns Thrombasthenia (GT) or have been diagnosed for some time, it is common to go ...
Diseases & Conditions Thrombasthenia * 2002187857-overviewDiseases & Conditions. Diseases & Conditions Upper Gastrointestinal ...
Background: Glanzmann Thrombasthenia (GT) is a genetic platelet dysfunction and a life threatening disease. Ankaferd Blood ... Keywords : Ankaferd Blood Stopper, disorders of hemostasis, Glanzmann thrombasthenia, oral systemic administration ... Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia ...
Dive into the research topics of Molecular diversity of Glanzmann thrombasthenia in Southern India: New insights into mRNA ... N2 - The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. Of 23 identified ... AB - The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. Of 23 identified ... The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. Of 23 identified mutations ...
Glanzmann thrombasthenia associated with HIV-Positive patient: A case report ...
Glanzmanns Thrombasthenia: Role of Angioembolization and factor VII in recurrent bleeding from ulcerated duodenum Authors. * ... Glanzmanns Thrombasthenia (GT), Functional disorder of Platelets, Angioembolization, Bleeding Diathesis Abstract. Introduction ... Abbas, A., Sayani, R., Syed Muhammad Mustahsan, & Saeed, A. (2016). Glanzmanns Thrombasthenia: Role of Angioembolization and ... Glanzmanns thrombasthenia (GT) is a rare, genetically inherited, functional disorder of platelets. The pathology is deficient ...
Detection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center Original ... ABSTRACT Introduction: The Glanzmann Thrombasthenia (GT) and Bernard-Soulier Syndrome (BSS) are rare hereditary disorders of ...
thrombasthenia. . name=description> ...
This integrin is missing in the platelets of patients with Glanzmanns thrombasthenia, an inherited disease. Although these ... Our results using CD61 to mimic Glanzmanns thrombasthenia suggest that microaggregation is distinct from full aggregation and ... Severe abnormalities in platelet function, such as Bernard-Soulier syndrome, Glanzmanns thrombasthenia, or platelet storage- ...
Glanzmann thrombasthenia. Normal platelet count and morphology. Absent response to all agonists other than ristocetin (normal ... Use to diagnose Bernard-Soulier syndrome or Glanzmann thrombasthenia in patients with a lifelong history of platelet-type ... Bernard-Soulier syndrome (an adhesion disorder) and Glanzmann thrombasthenia (an aggregation disorder) are among the most well- ... Platelet flow cytometry will not detect rare subtypes of Glanzmann thrombasthenia or Bernard-Soulier syndrome that are ...
The only UK-wide charity for all those affected by a genetic bleeding disorder
Glanzmanns Thrombasthenia which cannot be treated effectively with platelet transfusions.. Your doctor may want to give you ...
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. Poon MC, dOiron R, Hann I, Négrier C, de ...
  • Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. (medlineplus.gov)
  • People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. (medlineplus.gov)
  • Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). (medlineplus.gov)
  • The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. (medlineplus.gov)
  • Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. (medlineplus.gov)
  • Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. (medlineplus.gov)
  • Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin αIIbβ3 that is available. (medlineplus.gov)
  • Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (medlineplus.gov)
  • Glanzmann, a Swiss pediatrician, initially described thrombasthenia in 1918 when he noted purpuric bleeding in patients with normal platelet counts. (medscape.com)
  • Glanzmann thrombasthenia (GT) is one of several inherited disorders of platelet function, which also include Bernard-Soulier syndrome , as well as deficiencies of platelet adhesion, aggregation, and secretion. (medscape.com)
  • Miami, Fla) can replace bleeding times and may aid in the diagnosis of Glanzmann thrombasthenia (GT). (medscape.com)
  • The mutations can be reviewed at the Glanzmann Thrombasthenia Database , maintained by the Medical College of Wisconsin. (medscape.com)
  • Scientists discovered a whacky remedy for severe nosebleeds caused by a condition known as Glanzmann thrombasthenia - stuffing nostrils with pork strips worked quite well. (medicaldaily.com)
  • Glanzmann thrombasthenia (GT) is a rare platelet disorder in which the platelets have qualitative or quantitative deficiencies of the fibrinogen receptor αIIbβ3. (medscape.com)
  • [ 5 ] Acquired Glanzmann thrombasthenia is characterized by anti-αIIbβ3 autoantibodies or paraproteins that block platelet aggregation. (medscape.com)
  • Glanzmann thrombasthenia is normally of no clinical significance in patients who are heterozygous for this condition. (medscape.com)
  • There may a slightly higher female preponderance for Glanzmann thrombasthenia. (medscape.com)
  • For a review of pregnancy in women with Glanzmann thrombasthenia, see Siddiq et al. (medscape.com)
  • Patients with Glanzmann thrombasthenia can have severe bleeding problems, but their prognosis remains good with appropriate supportive care and platelet transfusions if necessary. (medscape.com)
  • Toogeh G, Sharifian R, Lak M, Safaee R, Artoni A, Peyvandi F. Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran. (medscape.com)
  • Humphreys I, Saraiya S, Belenky W, Dworkin J. Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia. (medscape.com)
  • Stem cell transplantation for children with Glanzmann thrombasthenia. (medscape.com)
  • At least 130 mutations in the ITGB3 gene have been found to cause Glanzmann thrombasthenia, which is a rare bleeding disorder. (medlineplus.gov)
  • A lack of platelet cohesion leads to prolonged or spontaneous bleeding episodes experienced by people with Glanzmann thrombasthenia. (medlineplus.gov)
  • People with this disorder have signs and symptoms similar to Glanzmann thrombasthenia (described above), including frequent nosebleeds (epistaxis), bleeding from the gums, or red or purple spots on the skin caused by bleeding underneath the skin (petechiae), but the episodes are typically milder. (medlineplus.gov)
  • Unlike Glanzmann thrombasthenia, this disorder results from a mutation in only one copy of the ITGB3 gene in each cell, and the mutations result in the formation of some integrin αIIbβ3 that is abnormally turned on (active), even when no clot is being formed. (medlineplus.gov)
  • Glanzmann thrombasthenia is rare and it is inherited in an autosomal recessive pattern. (medscape.com)
  • Glanzmann thrombasthenia is quite rare, is inherited in an autosomal recessive manner, and is observed most often in populations that have increased consanguinity. (medscape.com)
  • Bleeding problems can be severe in patients with Glanzmann thrombasthenia, but the prognosis remains good with appropriate supportive care. (medscape.com)
  • Glanzmann Thrombasthenia (GT) is a genetic platelet dysfunction and a life threatening disease. (balkanmedicaljournal.org)
  • The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. (tau.ac.il)
  • Bernard-Soulier syndrome (an adhesion disorder) and Glanzmann thrombasthenia (an aggregation disorder) are among the most well-recognized inherited disorders of platelet function and are severe clinical conditions. (arupconsult.com)
  • Glanzmann Thrombasthenia is a bleeding syndrome type of rare autosomal recessive and characterised by platelet aggregation. (drvikram.com)
  • Platelet aggregation defects which are mainly due to adenosine diphosphate (ADP) or collagen can mimic Glanzmann thrombasthenia. (drvikram.com)
  • How I manage pregnancy in women with Glanzmann thrombasthenia. (bvsalud.org)
  • Glanzmann's thrombasthenia is an abnormality of the platelets. (wikipedia.org)
  • citation needed] Glanzmann's thrombasthenia can be inherited in an autosomal recessive manner or acquired as an autoimmune disorder. (wikipedia.org)
  • The bleeding tendency in Glanzmann's thrombasthenia is variable, some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. (wikipedia.org)
  • Glanzmann's thrombasthenia is associated with abnormal integrin αIIbβ3, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa), which is an integrin aggregation receptor on platelets. (wikipedia.org)
  • citation needed] Understanding of the role of GpIIb/IIIa in Glanzmann's thrombasthenia led to the development of GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents. (wikipedia.org)
  • Light transmission aggregometry is widely accepted as the gold standard diagnostic tool for assessing platelet function, and a result of absent aggregation with any agonist except ristocetin is highly specific for Glanzmann's thrombasthenia. (wikipedia.org)
  • The molecular genetics of Glanzmann's thrombasthenia. (medscape.com)
  • Sonmez M, Baltacioglu E, Sarac O, Erkut N. The use of Ankaferd blood stopper in a patient with Glanzmann's thrombasthenia with gingival bleeding. (medscape.com)
  • Factor VIII/von Willebrand factor concentrate for treatment of life threatening epistaxis in Glanzmann's thrombasthenia. (medscape.com)
  • Successful unrelated donor cord blood transplantation for Glanzmann's thrombasthenia. (medscape.com)
  • In July 2014, the FDA approved coagulation factor VIIa as the first recombinant treatment for bleeding episodes and perioperative management in patients with Glanzmann's thrombasthenia refractory to platelet transfusions, with or without antibodies to platelets. (medscape.com)
  • If you're new to Glanzmann's thrombasthenia, there might be some lingo you don't know just yet. (curegt.org)
  • Whether you are newly diagnosed with Glanzmann's Thrombasthenia (GT) or have been diagnosed for some time, it is common to go through many ups and downs. (curegt.org)
  • Glanzmann's thrombasthenia (GT) is a rare, genetically inherited, functional disorder of platelets. (aeirc-edu.com)
  • Here in, we report the effectivity of angioembolization with factor VII in a patient with Glanzmann's thrombasthenia (GT), who presented with recurrent bleeding from duodenal ulcer. (aeirc-edu.com)
  • Severe abnormalities in platelet function, such as Bernard-Soulier syndrome, Glanzmann's thrombasthenia, or platelet storage-pool deficiency, are characterized by the inability of platelets to aggregate in response to certain agonists. (nature.com)
  • Glanzmann's Thrombasthenia which cannot be treated effectively with platelet transfusions. (mydr.com.au)
  • and high-level transgene expression in iPSC-derived megakaryocytes to correct Glanzmann's thrombasthenia and Wiskott-Aldrich syndrome. (genomeweb.com)
  • Platelet disorders - immune thrombocytopenic purpura (ITP), Glanzmann's thrombasthenia, Bernard Soulier syndrome. (apollohospitals.com)
  • His daughter was born with a rare congenital bleeding disorder, a platelet abnormality known as Glanzmann's Thrombasthenia. (hemosocal.org)
  • Severe disorders of platelet function: Wiskott-Aldrich syndrome (WAS), Glanzmann's thrombasthenia (GT), Bernard-Soulier syndrome (BSS). (calcuttayellowpages.com)
  • Some mucocutaneous bleeding disorders such as von Willebrand disease and the major platelet disorders such as Glanzmann's thrombasthenia are well defined. (ukri.org)
  • 11. Subjects with known bleeding disorders including thrombocytopenia, thrombasthenia, hemophilia or Von Willebrand's disease. (who.int)
  • As in most individuals with hereditary hematologic disorders, thrombasthenia is typically diagnosed at an early age. (medscape.com)
  • [ 1 ] The term thrombasthenia means weak platelets. (medscape.com)
  • A history of prolonged bleeding, a prolonged bleeding time, and failure of platelets to aggregate in response to L-epinephrine, adenosine 5'-diphosphate (ADP), collagen, and arachidonic acid are diagnostic of thrombasthenia. (medscape.com)
  • Refractory bleeding in individuals with thrombasthenia requires the transfusion of normal platelets. (medscape.com)
  • Patients with thrombasthenia may present with mucocutaneous bleeding at birth or early in infancy, however most patients are diagnosed later in childhood. (medscape.com)
  • Patients with thrombasthenia typically present with mucocutaneous bleeding at birth or early in infancy. (medscape.com)
  • Bloor AJ, Smith GA, Jaswon M, Parker NE, Ouwehand WH, Liesner R. Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child. (medscape.com)
  • Pediatricians must be aware of its existence and, when confronted with a complicating coagulopathy, consider thrombasthenia in the differential diagnosis. (medscape.com)
  • Three types of Glanzmann thrombasthenia have been classified according to the amount of integrin αIIbβ3 that is available. (medlineplus.gov)
  • Nurden AT, Fiore M, Nurden P, Pillois X. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (medlineplus.gov)
  • Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. (medscape.com)
  • Nurden AT, Pillois X. ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. (medscape.com)
  • citation needed] Glanzmann's thrombasthenia can be inherited in an autosomal recessive manner or acquired as an autoimmune disorder. (wikipedia.org)
  • After a brief hiatus while planning and organizing the 2023 GRF Conference, Bruised Not Broken: Life with Glanzmann's Thrombasthenia is back. (curegt.org)
  • Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. (nih.gov)
  • Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. (medlineplus.gov)
  • Tholouli E, Hay CR, O'Gorman P, Makris M. Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder. (medscape.com)
  • The Glanzmann Thrombasthenia (GT) is a rare inherited disorder of platelet function causing quantitative or qualitative defects of the platelet membrane glycoprotein (GP) IIb-IIIa (αIIbβ3) complex. (scielo.br)
  • Glanzmann Thrombasthenia (GT) is a rare bleeding disorder causing life-threatening bleeding at menarche in the adolescent female. (authorea.com)
  • Glanzmann thrombasthenia (GT) is a rare genetic bleeding disorder that makes you more likely to bleed after injury or surgery, or in response to an infection. (telewix.com)
  • Glanzmann thrombasthenia, also known as ATTR amyloidosis, is a genetic blood clotting disorder that prevents blood from clotting properly. (telewix.com)
  • Glanzmann Thrombasthenia, or GT, is a rare and incurable bleeding disorder. (telewix.com)
  • Glanzmann thrombasthenia is a platelet function disorder that is caused by an abnormality in the genes for glycoproteins IIb/IIIa. (ehc.eu)
  • Tanya is aged 52 and has Glanzmann's thrombasthenia (GT), an inherited platelet disorder. (plateletsociety.co.uk)
  • Glanzmann's thrombasthenia is a congenital disorder of platelet function with missing or abnormal platelet plasma membrane glycoprotein Ilb/IIIa which function as receptors for fibrinogen and other high-molecular-weight adhesive proteins which are important for platelet aggregation. (e-cep.org)
  • Pediatricians must be aware of its existence and, when confronted with a complicating coagulopathy, consider thrombasthenia in the differential diagnosis. (medscape.com)
  • When Do Symptoms of Glanzmann thrombasthenia Begin? (nih.gov)
  • Siddiq S, Clark A, Mumford A. A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. (medscape.com)
  • For a review of pregnancy in women with Glanzmann thrombasthenia, see Siddiq et al. (medscape.com)
  • How I manage pregnancy in women with Glanzmann thrombasthenia. (bvsalud.org)
  • Mutations in the ITGA2B or ITGB3 gene cause Glanzmann thrombasthenia. (medlineplus.gov)
  • A database of these mutations can be reviewed at the Samuel Bronfman Department of Medicine's Glanzmann Thrombasthenia Database . (medscape.com)
  • citation needed] Understanding of the role of GpIIb/IIIa in Glanzmann's thrombasthenia led to the development of GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents. (wikipedia.org)
  • Las membranas plaquetarias son deficientes o tienen un defecto en el complejo de la glicoproteína IIb-IIIa (COMPLEJO PLAQUETARIO DE LA GLICOPROTEÍNA GPIIB-IIIA). (bvsalud.org)
  • 14. Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann's thrombasthenia type I and type II. (nih.gov)
  • Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombasthenia. (nih.gov)
  • The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. (medlineplus.gov)
  • Independent adjudicator assessments of platelet refractoriness and rFVIIa efficacy in bleeding episodes and surgeries from the multinational Glanzmann's thrombasthenia registry. (medscape.com)
  • Glanzmann's thrombasthenia: the spectrum of clinical disease. (medscape.com)
  • The bleeding tendency in Glanzmann's thrombasthenia is variable, some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. (wikipedia.org)
  • The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. (medscape.com)
  • People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. (medlineplus.gov)
  • Humphreys I, Saraiya S, Belenky W, Dworkin J. Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia. (medscape.com)
  • We have experienced a case of thrombasthenia in a 12 month old male whose chief complaints were easy bruising and frequent epistaxis. (e-cep.org)
  • Fiore M, Pillois X, Nurden P, Nurden AT, Austerlitz F. Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. (medscape.com)
  • Glanzmann thrombasthenia is a rare, inherited condition that affects the body's ability to form clots. (telewix.com)
  • Glanzmann thrombasthenia, or GT, is a rare inherited disease that prevents blood from clotting properly. (telewix.com)
  • Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. (scielo.br)
  • Sonmez M, Baltacioglu E, Sarac O, Erkut N. The use of Ankaferd blood stopper in a patient with Glanzmann's thrombasthenia with gingival bleeding. (medscape.com)
  • Light transmission aggregometry is widely accepted as the gold standard diagnostic tool for assessing platelet function, and a result of absent aggregation with any agonist except ristocetin is highly specific for Glanzmann's thrombasthenia. (wikipedia.org)
  • Glanzmann thrombasthenia (GT) is one of several inherited disorders of platelet function, which also include Bernard-Soulier syndrome , as well as deficiencies of platelet adhesion, aggregation, and secretion. (medscape.com)
  • King LJ, Huff J, Heber D, Miller MA, Marshall B. Management of Refractory Menstrual Bleeding in an Adolescent with Glanzmann Thrombasthenia: A Case Report and Review. (medscape.com)
  • Anti-α IIb β 3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations. (medscape.com)
  • Over 500 cases of thrombasthenia have been reported in the international literature. (medscape.com)
  • Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community. (medlineplus.gov)
  • Poon MC, Di Minno G, d'Oiron R, Zotz R. New Insights Into the Treatment of Glanzmann Thrombasthenia. (medscape.com)