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Gray Platelet Syndrome
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. 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. Signs and symptoms Signs of GPS typically arise at birth or in childhood, these signs and symptoms include thrombocytopenia, bruising susceptibility, and Nosebleed, epistaxis. Typically, the observed low platelet count in individuals is progressive, this can result in fatal hemorrhages later in life. Additionally, females who are affected may experience irregular menstrual cycles and heavy menstrual bleeding. Another common effect of GPS is myelofibrosis, where scar tissue builds up in the bone marrow causing it to b ...
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Alpha-granules
Alpha granules, (α-granules) also known as platelet alpha-granules are a cellular component of platelets. Platelets contain different types of Granule (cell biology), granules that perform different functions, and include alpha granules, dense granules, and lysosomes. Of these, alpha granules are the most common, making up 50% to 80% of the secretory granules. Alpha granules contain several growth factors. Contents Contents include insulin-like growth factor 1, platelet-derived growth factors, TGF beta, platelet factor 4 (which is a heparin-binding chemokine) and other clotting proteins (such as thrombospondin, fibronectin, factor V, and von Willebrand factor). The alpha granules express the adhesion molecule P-selectin and CD63. These are transferred to the membrane after synthesis. The other type of granules within platelets are called dense granules. Clinical significance A deficiency of alpha granules is known as gray platelet syndrome. See also * Platelet rich fibrin ...
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Desmopressin
Desmopressin, sold under the trade name DDAVP among others, is a medication used to treat diabetes insipidus, bedwetting, hemophilia A, von Willebrand disease, and high blood urea levels. In hemophilia A and von Willebrand disease, it should only be used for mild to moderate cases. It may be given in the nose, by injection into a vein, by mouth, or under the tongue. Common side effects include headaches, diarrhea, and low blood sodium. The low blood sodium that results may cause seizures. It should not be used in people with significant kidney problems or low blood sodium. It appears to be safe to use during pregnancy. It is a synthetic analogue of vasopressin, the hormone that plays roles in the control of the body's osmotic balance, blood pressure regulation, kidney function, and reduction of urine production. Desmopressin was approved for medical use in the United States in 1978. It is on the World Health Organization's List of Essential Medicines. It is availab ...
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Syndromes Affecting Blood
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a syn ...
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Rare Syndromes
Rare may refer to: * Rare, a particular temperature of meat * Something infrequent or scarce, see Scarcity :* Rare species, a conservation category in biology designating the scarcity of an organism and implying a threat to its viability Rare or RARE may also refer to: Acronyms * Ram Air Rocket Engine, a U.S. Navy program of the 1950s *Ronne Antarctic Research Expedition Music * Rare (Northern Irish band), a 1990s trip hop group * Rare (Serbian band), an alternative rock band Albums * ''Rare'' (Asia album), 1999 * ''Rare'' (David Bowie album), 1982 * ''Rare'' (Hundredth album), 2017 * ''Rare'' (Selena Gomez album) or the title song (see below), 2020 * '' Rare!'', by Crack the Sky, 1994 * '' Rare, Vol. 1'', by Ultravox, 1993 * '' Rare, Vol. 2'', by Ultravox, 1994 * ''Rare: The Collected B-Sides 1989–1993'', by Moby, 1996 * ''Rare'', by Xiu Xiu, 2012 Songs * "Rare" (Gwen Stefani song), 2016 * "Rare" (Selena Gomez song), 2020 * "Rare", by Man Overboard from ''Man O ...
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Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incom ...
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Giant Platelet Disorder
Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like Bernard–Soulier syndrome, gray platelet syndrome and May–Hegglin anomaly. Signs and symptoms Symptoms usually present from the period of birth to early childhood as: nose bleeds, bruising, and/or gum bleeding. Problems later in life may arise from anything that can cause internal bleeding such as: stomach ulcers, surgery, trauma, or menstruation. Abnormality of the abdomen, nosebleeds, heavy menstrual bleeding, purpura, too few platelets circulating in the blood, and prolonged bleeding time have also been listed as symptoms of various giant platelet disorders. Genetics Many of the further classifications of giant platelet disorder occ ...
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Pseudo Gray Platelet Syndrome
Pseudo gray platelet syndrome was described by Cockbill, Burmester, and Heptinstall (1988) who reported a 25-year-old woman with a history of mild bruising and bleeding. Another case was described in Japan in 2002. Presentation Bleeding time, activated partial thromboplastin time, prothrombin time, and euglobulin lysis time were within normal limits. There were no platelet antibodies detected. The patient's mother and two sisters had histories of easy bruising and heavy menstrual periods. A brother had no reported bleeding tendencies. Platelets from the mother, sisters, and a daughter were normal in number and appearance under the light microscope. Platelets in blood collected into EDTA tubes appeared gray and agranular compared with platelets from blood in citrate or heparin. The key finding is under electron microscopy, EDTA-exposed platelets showed extensive activation, with loss of storage granule contents and pseudopod formation. Platelet aggregation studies were normal. The a ...
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Splenectomy
A splenectomy is the surgical procedure that partially or completely removes the spleen. The spleen is an important organ in regard to immunological function due to its ability to efficiently destroy encapsulated bacteria. Therefore, removal of the spleen runs the risk of overwhelming post-splenectomy infection, a medical emergency and rapidly fatal disease caused by the inability of the body's immune system to properly fight infection following splenectomy or asplenia. Common indications for splenectomy include trauma, tumors, splenomegaly or for hematological disease such as sickle cell anemia or thalassemia. Indications The spleen is an organ located in the abdomen next to the stomach. It is composed of red pulp which filters the blood, removing foreign material, damaged and worn out red blood cells. It also functions as a storage site for iron, red blood cells and platelets. The rest (~25%) of the spleen is known as the white pulp and functions like a large lymph n ...
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Electron Microscope
An electron microscope is a microscope that uses a beam of electrons as a source of illumination. It uses electron optics that are analogous to the glass lenses of an optical light microscope to control the electron beam, for instance focusing it to produce magnified images or electron diffraction patterns. As the wavelength of an electron can be up to 100,000 times smaller than that of visible light, electron microscopes have a much higher Angular resolution, resolution of about 0.1 nm, which compares to about 200 nm for optical microscope, light microscopes. ''Electron microscope'' may refer to: * Transmission electron microscopy, Transmission electron microscope (TEM) where swift electrons go through a thin sample * Scanning transmission electron microscopy, Scanning transmission electron microscope (STEM) which is similar to TEM with a scanned electron probe * Scanning electron microscope (SEM) which is similar to STEM, but with thick samples * Electron microprobe sim ...
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Blood Platelet
Platelets or thrombocytes () are a part of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping to form a blood clot. Platelets have no cell nucleus; they are fragments of cytoplasm from megakaryocytes which reside in bone marrow or lung tissue, and then enter the circulation. Platelets are found only in mammals, whereas in other vertebrates (e.g. birds, amphibians), thrombocytes circulate as intact mononuclear cells. One major function of platelets is to contribute to hemostasis: the process of stopping bleeding at the site where the lining of vessels (endothelium) has been interrupted. Platelets gather at the site and, unless the interruption is physically too large, they plug the hole. First, platelets attach to substances outside the interrupted endothelium: ''adhesion''. Second, they change shape, turn on receptors and secrete chemical messengers: ''activation''. Third, they connect to each other through r ...
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Megakaryocyte
A megakaryocyte () is a large bone marrow cell with a lobation, lobated nucleus that produces blood platelets (thrombocytes), which are necessary for normal blood coagulation, clotting. In humans, megakaryocytes usually account for 1 out of 10,000 bone marrow cells, but can increase in number nearly 10-fold during the course of certain diseases. Owing to variations in neoclassical compound, combining forms and spelling, synonyms include megalokaryocyte and megacaryocyte. Structure In general, megakaryocytes are 10 to 15 times larger than a typical red blood cell, averaging 50–100 μm in diameter. During its maturation, the megakaryocyte grows in size and replicates its DNA without cytokinesis in a process called mitosis#Errors and other variations, endomitosis. As a result, the nucleus of the megakaryocyte can become very large and lobulated, which, under a light microscope, can give the false impression that there are several nuclei. In some cases, the nucleus may contain up to ...
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NBEAL2
Neurobeachin-like 2 is a protein that in humans is encoded by the ''NBEAL2'' gene. Function The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Clinical relevance Mutation in this gene have been shown to cause gray platelet syndrome 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 .... References Further reading

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