Gray Platelet Syndrome
Blood Platelets
Platelet Storage Pool Deficiency
Platelet Factor 3
Platelet Aggregation
Platelet Membrane Glycoproteins
Periodic Acid-Schiff Reaction
HELLP Syndrome
Pedigree
The alpha-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (1/9)
(+info)Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (2/9)
(+info)Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (3/9)
(+info)Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (4/9)
(+info)NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (5/9)
(+info)Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction. (6/9)
(+info)Granule exocytosis is required for platelet spreading: differential sorting of alpha-granules expressing VAMP-7. (7/9)
(+info)Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and alpha-granule deficiency. (8/9)
(+info)Gray Platelet Syndrome (GPS) is a rare inherited platelet disorder, characterized by the presence of large, gray-blue or purple staining platelets in blood smears due to the absence or decreased amount of alpha granules, which are normally present in platelets. This condition was first described in 1971.
The main features of GPS include:
1. Thrombocytopenia (low platelet count) - Platelet counts can range from normal to very low levels.
2. Bleeding tendency - Patients with GPS usually have a bleeding diathesis, which varies in severity from mild to severe. The bleeding tendency is due to the impaired function of platelets caused by the absence of alpha granules.
3. Bone abnormalities - GPS can also be associated with bone abnormalities such as osteopenia (low bone density) and/or skeletal dysplasia (abnormal bone growth).
4. Neurological symptoms - Some patients may develop neurological symptoms, including ataxia (lack of muscle coordination), hearing loss, and intellectual disability.
GPS is caused by mutations in the NBEAL2 gene, which encodes a protein involved in the transport and secretion of alpha granules in megakaryocytes, the precursor cells of platelets. The disorder is inherited in an autosomal recessive manner, meaning that affected individuals have inherited two defective copies of the gene, one from each parent.
Diagnosis of GPS typically involves a combination of clinical evaluation, blood tests (including complete blood count and peripheral blood smear), and genetic testing to confirm the presence of pathogenic NBEAL2 mutations. Management of GPS primarily focuses on addressing bleeding symptoms through platelet transfusions, antifibrinolytic agents, or other hemostatic therapies as needed.
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.
Cytoplasmic granules are small, membrane-bound organelles or inclusions found within the cytoplasm of cells. They contain various substances such as proteins, lipids, carbohydrates, and genetic material. Cytoplasmic granules have diverse functions depending on their specific composition and cellular location. Some examples include:
1. Secretory granules: These are found in secretory cells and store hormones, neurotransmitters, or enzymes before they are released by exocytosis.
2. Lysosomes: These are membrane-bound organelles that contain hydrolytic enzymes for intracellular digestion of waste materials, foreign substances, and damaged organelles.
3. Melanosomes: Found in melanocytes, these granules produce and store the pigment melanin, which is responsible for skin, hair, and eye color.
4. Weibel-Palade bodies: These are found in endothelial cells and store von Willebrand factor and P-selectin, which play roles in hemostasis and inflammation.
5. Peroxisomes: These are single-membrane organelles that contain enzymes for various metabolic processes, such as β-oxidation of fatty acids and detoxification of harmful substances.
6. Lipid bodies (also called lipid droplets): These are cytoplasmic granules that store neutral lipids, such as triglycerides and cholesteryl esters. They play a role in energy metabolism and intracellular signaling.
7. Glycogen granules: These are cytoplasmic inclusions that store glycogen, a polysaccharide used for energy storage in animals.
8. Protein bodies: Found in plants, these granules store excess proteins and help regulate protein homeostasis within the cell.
9. Electron-dense granules: These are found in certain immune cells, such as mast cells and basophils, and release mediators like histamine during an allergic response.
10. Granules of unknown composition or function may also be present in various cell types.
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.
Platelet Storage Pool Deficiency (PSPD) is a group of bleeding disorders characterized by a decrease in the number or function of secretory granules (storage pools) in platelets, which are small blood cells that play a crucial role in clotting. These granules contain various substances such as ADP (adenosine diphosphate), ATP (adenosine triphosphate), calcium ions, and serotonin, which are released during platelet activation to help promote clot formation.
In PSPD, the quantitative or qualitative deficiency of these granules leads to impaired platelet function and increased bleeding tendency. The condition can be inherited or acquired, and it is often classified based on the type of granule affected: dense granules (delta granules) or alpha granules.
Delta granule deficiency, also known as Dense Granule Deficiency (DGD), results in decreased levels of ADP, ATP, and calcium ions, while alpha granule deficiency leads to reduced levels of von Willebrand factor, fibrinogen, and other clotting factors.
Symptoms of PSPD can vary from mild to severe and may include easy bruising, prolonged bleeding after injury or surgery, nosebleeds, and gum bleeding. The diagnosis typically involves platelet function tests, electron microscopy, and genetic testing. Treatment options depend on the severity of the condition and may include desmopressin (DDAVP), platelet transfusions, or other medications to manage bleeding symptoms.
Platelet Factor 3 (PF3) is not a separate protein entity but rather refers to the complex formed when platelets are activated and expose their inner membrane, specifically a phospholipid-rich granule called the granule membrane particle, to the outside. This complex of platelet membrane with coagulation factors then serves as a catalytic surface for the acceleration of thrombin formation in the coagulation cascade.
In other words, PF3 is a part of the activated platelet's surface that plays an important role in blood clotting by promoting the conversion of prothrombin to thrombin and the subsequent fibrin formation, which helps to strengthen the clot.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Megakaryocytes are large, specialized bone marrow cells that are responsible for the production and release of platelets (also known as thrombocytes) into the bloodstream. Platelets play an essential role in blood clotting and hemostasis, helping to prevent excessive bleeding during injuries or trauma.
Megakaryocytes have a unique structure with multilobed nuclei and abundant cytoplasm rich in organelles called alpha-granules and dense granules, which store various proteins, growth factors, and enzymes necessary for platelet function. As megakaryocytes mature, they extend long cytoplasmic processes called proplatelets into the bone marrow sinuses, where these extensions fragment into individual platelets that are released into circulation.
Abnormalities in megakaryocyte number, size, or function can lead to various hematological disorders, such as thrombocytopenia (low platelet count), thrombocytosis (high platelet count), and certain types of leukemia.
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.
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.
The Periodic Acid-Schiff (PAS) reaction is a histological staining method used to detect the presence of certain carbohydrates, such as glycogen and glycoproteins, in tissues or cells. This technique involves treating the tissue with periodic acid, which oxidizes the vicinal hydroxyl groups in the carbohydrates, creating aldehydes. The aldehydes then react with Schiff's reagent, forming a magenta-colored complex that is visible under a microscope.
The PAS reaction is commonly used to identify and analyze various tissue components, such as basement membranes, fungal cell walls, and mucins in the respiratory and gastrointestinal tracts. It can also be used to diagnose certain medical conditions, like kidney diseases, where abnormal accumulations of carbohydrates occur in the renal tubules or glomeruli.
In summary, the Periodic Acid-Schiff reaction is a staining method that detects specific carbohydrates in tissues or cells, which can aid in diagnostic and research applications.
HELLP syndrome is a serious complication in pregnancy, characterized by Hemolysis (the breakdown of red blood cells), Elevated Liver enzymes, and Low Platelet count. It is often considered a variant of severe preeclampsia or eclampsia, although it can also occur without these conditions.
The symptoms of HELLP syndrome include headache, nausea and vomiting, upper right abdominal pain, and visual disturbances. It can lead to serious complications for both the mother and the baby, such as liver failure, placental abruption, disseminated intravascular coagulation (DIC), and even death if not promptly diagnosed and treated.
The exact cause of HELLP syndrome is not known, but it is thought to be related to problems with the blood vessels that supply the placenta. Treatment typically involves delivering the baby as soon as possible, even if the baby is premature. Women who have had HELLP syndrome are at increased risk for complications in future pregnancies.
Thrombocytopenia is a medical condition characterized by an abnormally low platelet count (thrombocytes) in the blood. Platelets are small cell fragments that play a crucial role in blood clotting, helping to stop bleeding when a blood vessel is damaged. A healthy adult typically has a platelet count between 150,000 and 450,000 platelets per microliter of blood. Thrombocytopenia is usually diagnosed when the platelet count falls below 150,000 platelets/µL.
Thrombocytopenia can be classified into three main categories based on its underlying cause:
1. Immune thrombocytopenia (ITP): An autoimmune disorder where the immune system mistakenly attacks and destroys its own platelets, leading to a decreased platelet count. ITP can be further divided into primary or secondary forms, depending on whether it occurs alone or as a result of another medical condition or medication.
2. Decreased production: Thrombocytopenia can occur when there is insufficient production of platelets in the bone marrow due to various causes, such as viral infections, chemotherapy, radiation therapy, leukemia, aplastic anemia, or vitamin B12 or folate deficiency.
3. Increased destruction or consumption: Thrombocytopenia can also result from increased platelet destruction or consumption due to conditions like disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), or severe bacterial infections.
Symptoms of thrombocytopenia may include easy bruising, prolonged bleeding from cuts, spontaneous nosebleeds, bleeding gums, blood in urine or stools, and skin rashes like petechiae (small red or purple spots) or purpura (larger patches). The severity of symptoms can vary depending on the degree of thrombocytopenia and the presence of any underlying conditions. Treatment for thrombocytopenia depends on the cause and may include medications, transfusions, or addressing the underlying condition.
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.
A platelet count is a laboratory test that measures the number of platelets, also known as thrombocytes, in a sample of blood. Platelets are small, colorless cell fragments that circulate in the blood and play a crucial role in blood clotting. They help to stop bleeding by sticking together to form a plug at the site of an injured blood vessel.
A normal platelet count ranges from 150,000 to 450,000 platelets per microliter (µL) of blood. A lower than normal platelet count is called thrombocytopenia, while a higher than normal platelet count is known as thrombocytosis.
Abnormal platelet counts can be a sign of various medical conditions, including bleeding disorders, infections, certain medications, and some types of cancer. It is important to consult with a healthcare provider if you have any concerns about your platelet count or if you experience symptoms such as easy bruising, prolonged bleeding, or excessive menstrual flow.
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.
Thrombocytopenia18
- GPS is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears. (wikipedia.org)
- Electron microscopy of platelets differentiates GPS from the autosomal dominant variant and from the X-linked variant described as X-linked thrombocytopenia with thalassemia, caused by mutations in GATA1 gene (see this term). (orpha.net)
- The workup of a patient with a platelet-type bleeding pattern typically includes correlation with platelet count ( thrombocytopenia ), evaluation of platelet morphology on peripheral smear, exclusion of acquired causes of platelet dysfunction, and testing for von Willebrand disease (VWD) . (arupconsult.com)
- However, this mechanism may not be efficient enough to produce sufficient platelet numbers under conditions of increased platelet consumption, such as inflammation/infection, immune thrombocytopenia, or traumatic blood loss. (rupress.org)
- Increased platelet destruction or consumption, as seen in conditions like immune-mediated thrombocytopenia or hypersplenism. (eoceanofgames.com)
- Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and a tendency toward bleeding. (medscape.com)
- Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. (medscape.com)
- The cause of the thrombocytopenia is not definitely known but is probably related to a decrease in platelet life span. (medscape.com)
- Thrombosis with thrombocytopenia syndrome (TTS) is a rare but potentially severe adverse event following immunization with adenovirus vector-based COVID-19 vaccines such as Ad26.COV2.S (Janssen) and ChAdOx1 (AstraZeneca). (bvsalud.org)
- We retrospectively studied the clinical manifestations and diagnosis process of ANKRD26 -RT and discussed the treatment efficacy of immunosuppressants and eltrombopag for its management.We found two pediatric cases of patients with ANKRD26 -RT with varying degrees of thrombocytopenia, mild bleeding, normal mean platelet volume, and megakaryocyte maturation impairment that was not obvious. (bvsalud.org)
- Eight units of packed red cells and 4 units of platelets were transfused for correction of anaemia and thrombocytopenia. (org.pk)
- The phenotypes that are covered by the panel include VWD, hemophilia A and B, rare bleeding disorders, Hermansky Pudlak syndrome, Wiskott-Aldrich syndrome, Bernard Soulier syndrome, Glanzmann disease, thrombocytopenia 2, familial platelet syndrome with predisposition to acute myelogenous leukemia and gray platelet syndrome. (ghcgenetics.com)
- The cause of the thrombocytopenia is not definitely known but is thought probably to be related to the absence of the GPIb/IX/V complex and its role in the production and shedding of platelets from the marrow megakaryocytes. (medscape.com)
- Purpura that are palpable suggest capillary leak from vasculitis, whereas purpura associated with thrombocytopenia or qualitative platelet defects are generally not elevated and cannot be distinguished by touch. (vdocuments.net)
- Hepatosplenomegaly, thrombocytopenia, macular abnormalities, pulmonary infiltrates on chest radiograph, patchy brownish-gray pigmentation of the upper body, occasional neurologic abnormalities (ataxia, dementia, seizures), predisposition for parasitic infections, and elevated bleeding times in albino patients with normal platelet counts. (mhmedical.com)
- Avoid central-neuraxial anesthesia in albino patient even with normal platelet counts (increased bleeding times) and patients with thrombocytopenia. (mhmedical.com)
- And thrombocytopenia is a condition in which you have low blood platelet count, defined as less than 150. (cdc.gov)
- So, the discussion around this issue or awareness of this issue originated from reports of a rare but serious condition following AstraZeneca's COVID-19 vaccine, and this condition initially recognized was CVST in the presence of thrombocytopenia, so, blood clots in the brain with low platelets. (cdc.gov)
Alpha-granule deficiency1
- Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. (wikipedia.org)
Impaired platelet function2
- Hence, reduced platelet numbers and/or impaired platelet function, as found in the context of numerous pathologies or upon pharmacological intervention, may have a negative impact on a large variety of physiological processes and under certain circumstances can become life threatening ( Sachs and Nieswandt, 2007 ). (rupress.org)
- 100, 000/cumm usually indicates impaired platelet function (e.g. due to aspirin) or von Willebrand's disease. (pediaindia.net)
Willebrand5
- A very rare disorder in which a person's platelets do not have enough of the receptor (glycoprotein Tb/TX) needed to bind von Willebrand factor. (curegt.org)
- The common conditions associated with menorrhagia include von Willebrand disease (VWD), platelet function disorders and coagulation factor deficiencies. (org.pk)
- 3 Among the platelet dysfunction, the commonest disorder is decreased aggregation response to ristocetin, in the presence of normal VWF:RCo and VWF(von willebrand factor). (org.pk)
- Disorders of platelet adhesion include Von Willebrand disease, Bernard-Soulier Syndrome (BSS) and Collagen receptor defects. (org.pk)
- In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein (GPIb/IX/V) complex which is the receptor for von Willebrand factor (vWF). (medscape.com)
Defect8
- In the 1970s, the molecular defect was shown to involve the absence of a platelet membrane glycoprotein. (medscape.com)
- The underlying biochemical defect in BSS is the absence or decreased expression of the glycoprotein Ib/IX/V complex on the surface of the platelets. (medscape.com)
- The gray platelet syndrome, surgical defect involvement of fibers to the nuclear finally terminate in the acute onset of malaise, infection is sus- undergone solid increased signal in the. (umbc.edu)
- BT increased out of proportion to platelet count suggests von Willebrand's disease or qualitative platelet defect. (pediaindia.net)
- She was diagnosed as a case of combined platelet storage pool defect with Bernard-Soulier syndrome. (org.pk)
- A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. (nih.gov)
- It is the second most common inherited platelet defect. (medscape.com)
- polycythemia, qualitative platelet defect)5. (vdocuments.net)
Disorder17
- The name derives from the initial observation of gray appearance of platelets with a paucity of granules on blood films from a patient with a lifelong bleeding disorder. (wikipedia.org)
- Pseudo gray platelet syndrome Giant platelet disorder Online Mendelian Inheritance in Man (OMIM): 139090 Nurden AT, Nurden P (January 2007). (wikipedia.org)
- Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. (medlineplus.gov)
- Gray platelet syndrome appears to be a rare disorder. (medlineplus.gov)
- Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. (orpha.net)
- Absence or marked reduction of alpha-granules in platelets underlie the disorder. (orpha.net)
- It is important to rule out acquired conditions during an evaluation for a functional platelet disorder. (arupconsult.com)
- 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)
- Laboratory testing for functional platelet disorders is appropriate in individuals with bleeding manifestations that suggest a functional platelet disorder (eg, easy bruising, prolonged bleeding following dental work or surgery, menorrhagia), particularly those with a family history of a bleeding disorder and in whom VWD has been previously excluded. (arupconsult.com)
- Initial laboratory testing for a functional platelet disorder includes a CBC with platelet count and a peripheral smear. (arupconsult.com)
- Bloom's Syndrome is a very rare inherited genetic disorder, caused by a gene that does not function properly. (netlify.app)
- Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet alpha-granules resulting in typical gray platelets on peripheral smears. (hacettepe.edu.tr)
- There can also be risks associated with the underlying disorder that is causing the large platelets to develop in the body. (thehealthboard.com)
- The majority of studies, which have been conducted in the West, report VWD, as the most common inherited bleeding disorder leading to menorrhagia, whereas studies from South-East Asia have found platelet function disorder as the leading inherited bleeding disorder in women with menorrhagia. (org.pk)
- 4 Pakistan has a strong tradition of consanguineous marriages, so it is assumed that the incidence of platelet disorder will be higher. (org.pk)
- We describe here three cases of adolescent menorrhagia due to platelet function disorder. (org.pk)
- Bleeding disorder refers to a heterogenous group of diseases caused by deficiencies in platelet function or coagulation factors. (ghcgenetics.com)
Deficiency2
- Increased platelet production in response to certain conditions or situations, such as rebound thrombocytosis, recovery from iron deficiency anaemia, or after resolving an infection. (eoceanofgames.com)
- Disorders of platelet secretion include Platelet Storage Pool Deficiencies and include Gray Platelet syndrome, delta storage pool deficiency and alpha-delta storage pool deficiency. (org.pk)
Peripheral5
- Peripheral smears show typical large, pale gray platelets. (orpha.net)
- Photomicrograph of a peripheral smear of a patient with agnogenic myeloid metaplasia (idiopathic myelofibrosis) shows findings of leukoerythroblastosis, giant platelets, and few teardrop cells. (medscape.com)
- Peripheral smear of patient with Bernard-Soulier syndrome (BSS) showing giant platelets. (medscape.com)
- The initial laboratory test should include platelet count, peripheral blood smear, Prothrombin time and activated partial thromboplastin time. (org.pk)
- Her peripheral blood smear showed large platelets. (org.pk)
Secreted during platelet act1
- Alpha-granules are the most abundant vesicles in platelets and store proteins that promote platelet adhesiveness and wound healing when secreted during platelet activation. (orpha.net)
Large platelets8
- What are the Dangers of Large Platelets? (thehealthboard.com)
- The dangers of large platelets vary, depending on the underlying cause for the increase in platelet size. (thehealthboard.com)
- Because an array of conditions can be responsible for an increase in platelet size, it may be necessary to conduct several different medical tests to find out why a patient has large platelets. (thehealthboard.com)
- Many people who have large platelets also have a reduced platelet count. (thehealthboard.com)
- Large platelets cannot properly form blood clots. (thehealthboard.com)
- The most common problem experienced by people with large platelets is increased bleeding. (thehealthboard.com)
- Even a mild nosebleed can require medical attention if the sufferer has large platelets that interfere with clotting. (thehealthboard.com)
- My ex said he's got large platelets and an ectopic heat, but he's not on any meds and he said he could die from a serious attack any time. (thehealthboard.com)
Abnormalities2
- Disorders caused by abnormalities in platelet count or function. (umassmed.edu)
- May be useful to monitor treatment of active hemorrhage in patients with prolonged BT due to uremia, Von Willebrand's disease, congenital platelet function abnormalities or severe anemia. (pediaindia.net)
Congenital1
- Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1 , a gene encoding a putative lysosomal trafficking protein. (biomedcentral.com)
Macrothrombocytopenia2
- Without alpha-granules, platelets are unusually large and fewer in number than usual (macrothrombocytopenia). (medlineplus.gov)
- Macrothrombocytopenia, as it is formally known, occurs when the normally small and highly fragmented platelets are bigger than usual. (thehealthboard.com)
Proteins3
- It appears to play a role in the formation of alpha-granules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing . (medlineplus.gov)
- In response to an injury that causes bleeding, the proteins stored in alpha-granules help platelets stick to one another to form a plug that seals off damaged blood vessels and prevents further blood loss. (medlineplus.gov)
- GPS platelets have no alpha granules, which store proteins necessary for platelet aggregation and clotting. (nih.gov)
Normal platelet count1
- To work up for coagulation disorders in patients, having history of excess bleeding even with normal platelet count. (pediaindia.net)
Megakaryocytes7
- It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules. (wikipedia.org)
- Megakaryocytes (MKs) are the cellular source of platelets. (elifesciences.org)
- http://dx.doi.org/10.1083/jcb.201410052 ) show that platelet release from megakaryocytes can be induced by interleukin-1α (IL-1α) via a new rupture mechanism, which yields higher platelet numbers, occurs independently of the key regulator of megakaryopoiesis thrombopoietin, and may occur during situations of acute platelet need. (rupress.org)
- Platelets are continuously produced by fragmentation of the cytoplasm of their giant polyploid precursors in the bone marrow, the megakaryocytes. (rupress.org)
- This work provides for the first time an explanation of how megakaryocytes can maintain platelet mass equilibrium and quickly restore platelet numbers under pathological conditions associated with increased platelet turnover. (rupress.org)
- Qualitative disorders of platelets and megakaryocytes. (medscape.com)
- GPIb/IX/V complex is located in the platelet cytoskeleton and hence is also essential to the production of platelets from the megakaryocytes in the bone marrow (which explains the large size and decreased numbers of platelets in this syndrome). (medscape.com)
Aggregation of platelets2
- Functional platelet disorders affect the adhesion, activation, or aggregation of platelets and are frequently associated with excessive bleeding, often following trauma or surgery. (arupconsult.com)
- This process is demonstrated by the lack of aggregation of platelets in response to ristocetin, an antibiotic that normally causes platelets to aggregate. (medscape.com)
Myelofibrosis1
- A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. (medlineplus.gov)
Receptor2
- A chemical substance that binds to a specific receptor on a platelet and triggers a reaction. (curegt.org)
- Biogenesis of the platelet receptor for fibrinogen: evidence for separate precursors for glycoproteins IIb and IIIa. (medscape.com)
Disorders affectin3
- Decreased platelet production in the bone marrow, which can be associated with conditions like aplastic anaemia, chemotherapy or radiation therapy, or certain genetic disorders affecting platelet production. (eoceanofgames.com)
- Inherited disorders affecting platelet production or function, such as Bernard-Soulier syndrome or Gray platelet syndrome. (eoceanofgames.com)
- Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. (nih.gov)
Evaluation of platelet1
- Platelet function analyzer (PFA)-100(R) closure time in the evaluation of platelet disorders and platelet function - a rebuttal. (iakh.de)
Dysfunction3
- How platelets work: platelet function and dysfunction. (umassmed.edu)
- Normal BT without suggestive history usually excludes platelet dysfunction. (pediaindia.net)
- Studies from West have also found an increased incidence of platelet dysfunction in Black women, compared to Caucasians. (org.pk)
Genetic5
- further testing may include platelet aggregation tests, platelet flow cytometry, and in some cases, genetic testing. (arupconsult.com)
- Bloom syndrome is a rare, inherited genetic disease passed through families in an autosomal recessive manner. (netlify.app)
- Certain genetic disorders, such as Bernard-Soulier syndrome or Gray platelet syndrome, can cause variations in platelet size and subsequently affect MPV levels. (eoceanofgames.com)
- The platelet size can be genetic, as seen in people with Bernard-Soulier syndrome, gray platelet syndrome, and May-Hegglin anomaly. (thehealthboard.com)
- Sawitsky A: The sea-blue histiocyte syndrome, a review: Genetic and biochemical studies. (mhmedical.com)
Myelodysplastic syndromes1
- however, the presence of sea-blue histiocytes is a common abnormality of the bone marrow in myelodysplastic syndromes. (mhmedical.com)
Acute1
- Increased platelet activation, as seen in conditions like cardiovascular diseases or acute coronary syndromes, can lead to higher MPV levels. (eoceanofgames.com)
Defects1
- 1 Among the inherited bleeding disorders, Platelet function defects are also an important cause of menorrhagia. (org.pk)
Flow cytometry1
- Application of flow cytometry to platelet disorders. (umassmed.edu)
Megakaryocyte5
- Intracytoplasmic neutrophils develop membrane contiguity with the demarcation membrane system, thereby transferring membrane to the megakaryocyte and to daughter platelets. (elifesciences.org)
- These findings identify emperipolesis as a new cell-in-cell interaction that enables neutrophils and potentially other cells passing through the megakaryocyte cytoplasm to modulate the production and membrane content of platelets. (elifesciences.org)
- Circulating platelets were thought to arise solely from the protrusion and fragmentation of megakaryocyte cytoplasm. (rupress.org)
- Even though the platelets released by megakaryocyte rupture were mildly enlarged in size, they were functionally indistinguishable from proplatelet-derived platelets. (rupress.org)
- Both patients were 1-year-old and presented with mild bleeding (World Health Organization(WHO) score grade 1), different degrees of platelet reduction, normal mean platelet volume, and megakaryocyte maturation impairment not obvious. (bvsalud.org)
Bone marrow5
- Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. (medlineplus.gov)
- Platelets are produced in the bone marrow. (eoceanofgames.com)
- An MPV blood test measures the size of platelets, aiding in the diagnosis of bleeding disorders and bone marrow-related diseases. (eoceanofgames.com)
- Conditions that affect platelet production, such as bone marrow disorders or certain medications, can influence MPV levels. (eoceanofgames.com)
- Inflammatory or autoimmune disorders that lead to increased platelet activation and release of larger platelets from the bone marrow. (eoceanofgames.com)
NBEAL24
- Gray platelet syndrome can be caused by mutations in the NBEAL2 gene. (medlineplus.gov)
- Some people with gray platelet syndrome do not have an identified mutation in the NBEAL2 gene. (medlineplus.gov)
- Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (medlineplus.gov)
- Recently, basic researchers in the section identified NBEAL2 as the gray platelet syndrome (GPS) gene. (nih.gov)
Anomaly2
- For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders. (nih.gov)
- Other disorders in this category are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
Deficiencies1
- Functional platelet disorders are generally associated with immediate bleeding in response to surgery or trauma, whereas factor deficiencies are associated with delayed bleeding. (arupconsult.com)
Counts5
- Splenectomy can be used to increase the platelet counts in those whose platelet counts decrease to approximately 30,000/microliter. (wikipedia.org)
- Presenting features include low platelet counts, easy bruising (petechiae), prolonged bleeding and epistaxis. (orpha.net)
- GPS may result in fatal hemorrhage especially in adulthood when platelet counts are further decreased. (orpha.net)
- Immunosuppressant treatment wasunresponsiveor temporarily responsivebut not sustained , and short-term administration of eltrombopag (25 mg/day) was safe, but it did not effectively improve the patients' platelet counts. (bvsalud.org)
- Platelets should be transfused if platelet counts are less than 50,000/mm 3 , in presence of active oozing or bleeding and in albino patients. (mhmedical.com)
Mutations3
- Bloom syndrome is caused by mutations in the BLM gene. (netlify.app)
- Background: Bloom syndrome (BS) is characterized by mutations within the BLM gene. (netlify.app)
- In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), respectively. (netlify.app)
Activation1
- By assessing the MPV, healthcare professionals can gain important information about platelet production, activation, and overall platelet function. (eoceanofgames.com)
Clot3
- The acronym MPV stands for mean platelet volume, referring to the average size of platelets, which are tiny blood cells responsible for clot formation and wound healing. (eoceanofgames.com)
- In HPS, membrane vesicles such as melanosomes in melanocytes, which form pigment, and dense bodies in platelets, which help clot blood, do not form properly. (nih.gov)
- The oversized platelets cannot clot properly and as a result, the patient may bleed freely from even small injuries, develop substantial bruising, and experience internal bleeding that is difficult to stop because the blood does not clot. (thehealthboard.com)
Secretion2
- M, Gresele P. Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology. (umassmed.edu)
- Mumford AD, Frelinger AL, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D. A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders. (umassmed.edu)
Associated with abnormal1
- This syndrome is associated with abnormal storage of phosphosphingolipid and glycosphingolipid, which occurs mainly in the spleen and liver. (mhmedical.com)
Gene3
- Researchers are working to determine which gene or genes are associated with the autosomal dominant form of gray platelet syndrome. (medlineplus.gov)
- Results: A 39 year old man with a rare autosomal recessive "chromosome Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. (netlify.app)
- The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. (netlify.app)
Membrane1
- This phenomenon occurs in otherwise unmanipulated murine marrow in vivo, resulting in circulating platelets that bear membrane from non-megakaryocytic hematopoietic donors. (elifesciences.org)
Disease3
- Blooms syndrom Bloom syndrome is an inherited disease that causes a person's chromosomes to break and rearrange frequently. (netlify.app)
- A type of Storage Pool Disease in which the alpha granules inside a platelet are missing. (curegt.org)
- A type of Storage Pool Disease in which the platelets have few or no alpha and delta (also called dense) granules. (curegt.org)
PMID1
- and (3) inherited platelet disorders (PMID: 24124085). (ghcgenetics.com)
Thrombosis1
- and for leukemia‐free survival were prefibrotic PMF morphology, thrombosis and extreme thrombocytosis (platelets >1 million/μl). (senorcafe.com)
Function7
- aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs) are common causes of abnormal platelet function, and platelet function testing may need to be deferred if patients have been taking these medications. (arupconsult.com)
- Storage spaces inside platelets that hold chemicals that are necessary for platelets to function normally. (curegt.org)
- The function of platelets is to help stopping blood when a person gets cut. (thehealthboard.com)
- Neonatal platelet function. (umassmed.edu)
- We report here three cases of adolescent menorrhagia due to platelet function disorders, along with review of literature. (org.pk)
- Platelet function tests showed a decreased response to adenosine diphosphate (ADP), collagen, ristocetin and epinephrine - induced aggregation. (org.pk)
- The predictive value of modified computerized thromboelastography and platelet function analysis for postoperative blood loss in routine cardiac surgery. (iakh.de)
Count6
- Typically, the observed low platelet count in individuals is progressive, this can result in fatal hemorrhages later in life. (wikipedia.org)
- ITP - but the bleeding seems excessive given the platelet count of 72. (ihaematology.com)
- Typically, the MPV test is accompanied by a platelet count, which determines the total number of platelets present in the blood. (eoceanofgames.com)
- Laboratory investigations included the following: haemoglobin 6.0 gm/dl, total leukocyte count 6.900/mm and platelet count 17,000. (org.pk)
- Check platelet count. (mhmedical.com)
- Dangerous internal bleeding can occur when your platelet count follows below 10,000 or below 10 platelets per microliter. (cdc.gov)
Dense bodies1
- dense bodies and other platelet organelles and polymorphonuclear leukocytes are normal on EM. (orpha.net)
Abnormal2
- The abnormal platelets also appear gray when viewed under a microscope, which gives this condition its name. (medlineplus.gov)
- A lack of alpha-granules impairs the normal activity of platelets during blood clotting, increasing the risk of abnormal bleeding. (medlineplus.gov)
Thrombocytes1
- Platelets, also known as thrombocytes, play a crucial role in the clotting process, preventing excessive bleeding and promoting wound healing. (eoceanofgames.com)
Inherited in an autosomal recessive1
- Bloom syndrome is inherited in an autosomal recessive pattern. (netlify.app)
Occurs1
- For example, in conditions like immune thrombocytopenic purpura (ITP) or chemotherapy, where platelet destruction or suppression occurs, MPV levels may increase. (eoceanofgames.com)
Patients5
- Patients can be expected to develop complications secondary to decreased production of functional white blood cells (infection), decreased numbers of red blood cells (anemia), and decreased numbers of platelets (bleeding). (medscape.com)
- The chromosome instability seen in patients with Bloom syndrome causes high rates of cancer beginning in childhood or early adulthood. (netlify.app)
- The evidence for the use of recombinant human activated factor VII in the treatment of bleeding patients with quantitative and qualitative platelet disorders. (medscape.com)
- Care of patients with Bernard-Soulier syndrome (BSS) is generally supportive. (medscape.com)
- Recently, basal levels of the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) have been suggested to be predictive factors for serious irAEs in patients with lung cancer [ 5 , 6 ]. (biomedcentral.com)
