Thrombocytopenia and enlarged platelets are associated with a. Instead, treatment aims to reduce symptoms and prevent complications. A 30yearold turkish woman was admitted to the department of heamatology for evaluation of thrombocytopenia. Pdf gray platelet syndrome gps is an autosomal recessive disorder characterized by thrombocytopenia and defective platelets that appear. Pdf on jan 10, 20, alan d michelson and others published gray platelet syndrome find, read and cite all the research you need on. Raccuglia 1 is generally recognised to have first described the gray platelet syndrome gps, although earlier reports described patients with platelets that may have been symptomatic of it. Pseudo grey platelet syndrome grey platelets due to. The gray platelet syndrome gps is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alphagranules and of the proteins contained in alphagranules.
The platelets are large and have a grey appearance on light microscopy. Gray platelet syndrome american society of hematology. The gray platelet syndrome gps is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alphagranules and of the proteins contained in alphagranules the platelets are enlarged, but not giant, and have a gray appearance on light microscopy of wrightstained peripheral blood. Gray platelet syndrome gps is the result of homozygous mutations in nbeal2, a regulator of membrane dynamics and vesicle trafficking, affecting. Grey platelet syndrome gps is a highly infrequent, inherited bleeding disorder characterized by the presence of unusually large, greycolored platelets a type of blood cell, and deficient production of platelet alphagranules small particles containing many plateletrelated growth factors in blood. Gray platelet syndrome gps, or platelet alphagranule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alphagranules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis gps is primarily inherited in an autosomal recessive manner, and the gene that. Gray platelet syndrome gps is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly.
Gray platelet syndrome gps the gray platelet syndrome gps is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alphagranules and of the proteins contained in alphagranules. Thrombocytopenia and enlarged platelets are associated with a specific absence of. Genetic analysis of gray platelet syndrome full text view. Clinical spectrum of the disease nurden, alan t nurden, paquita 20070101 00. It is one of the macrothrombocytopenias, which are inherited thrombocytopenias with increased platelet size. The role of blood film morphology in thrombocytopenia. An autosomal dominant mim 9090 condition in which the platelets lack alpha and dense granules and by extension, certain platelet proteinse.
Here we show that nbeal2 knockout mice display the characteristics of human gps, with defective. Two cases that were identified during routine blood examination, presented an artifact the pseudogrey platelet syndrome. Jul 25, 2011 researchers have identified an elusive gene responsible for gray platelet syndrome, an extremely rare blood disorder in which only about 50 known cases have been reported. A 5yearold girl was treated for 4 years based on a diagnosis of immune thrombocytopenia itp. Gps is associated with a bleeding tendency, myelofibrosis, and splenomegaly. They may also experience abnormally heavy or extended bleeding following surgery. Grey platelet syndrome gps is probably a heterogeneous disorder with more than one molecular cause. This artifactual anomaly did not occur when samples were collected in. Most common cause of platelet not being accurately counted by automated analyser is the presence of giant platelet and platelet satellitism. Researchers have identified an elusive gene responsible for gray platelet syndrome, an extremely rare blood disorder in which only about 50 known cases have been reported.
The platelet count was mildly decreased compared to normal, but increased after splenectomy at age 9 years. The consultant hematologist is often asked to evaluate patients with a bleeding disorder with clinical characteristics suggesting the presence of a qualitative andor quantitative. Another cause in northeast region is, harris platelet syndrome most common cause of inherited thrombocytopenia is characterised by low platelet count, high mpv and absence of bleeding. A reliable laboratory diagnosis of a platelet disorder can significantly impact patients and, potentially, their family members clinical management and outcome. The detection of markedly hypogranular platelets including large platelets led to the diagnosis of the gray platelet syndrome, a condition in which. Grey platelet syndrome definition of grey platelet. About 60 cases from various populations around the world have been described in the literature to date. Change the current second paragraph to its own heading diagnosis, and what kind of mutations on the gene caused the syndrome and how its diagnosed. Gray platelet syndrome blood american society of hematology. A drug history should be taken, including medicines bought over the counter. Patients should be assessed for disorders that may cause acquired platelet dysfunction or vasculitis. Gps is characterized by thrombocytopenia, abnormally large agranular platelets in peripheral blood smears, and almost total absence of platelet alphagranules and their constituents.
This study will identify and characterize the gene or genes responsible for gray platelet syndrome gps. When a blood vessel is injured like a cut on a finger, platelets release the proteins stored in their sacs to help form a blood clot. Gray platelet syndrome bain 2011 american journal of. The abnormal alphagranules appear grey on blood films stained by the maygrunwaldgiesma stain hence, the syndromes name. Gray platelet syndrome, blood, volume 121, issue 2, 10 january 20, pages 250.
Grey platelet syndrome gps is a rare, congenital disorder which causes a bleeding disorder. Dec 11, 2011 two cases that were identified during routine blood examination, presented an artifact the pseudo grey platelet syndrome. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Grey platelet syndrome misdiagnosed as itp mayo clinic. Sep 18, 2018 grey platelet syndrome gps is a highly infrequent, inherited bleeding disorder characterized by the presence of unusually large, grey colored platelets a type of blood cell, and deficient production of platelet alphagranules small particles containing many platelet related growth factors in blood. Gray platelet syndrome gps is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis. Disorders of platelet function include several rare congenital disorders, as well as a myriad of common acquired conditions eg, aspirin use, effects of other drugs, liver disease, uremia. Raccuglia 1971 provided the first report of gray platelet syndrome, which they described as a qualitative defect in platelets gerrard et al. Gps patients exhibit much heterogeneity both in bleeding severity and in their response to platelet function testing.
The gray platelet syndrome gps is a rare inherited disorder of the megakaryocyte mk lineage. Gray platelet syndrome gps, is a rare autosomal recessive bleeding disorder first reported in 1970 caused by mutations in nbeal2 1416. Little is known about the protein produced from this gene. Sep 30, 2003 this study will identify and characterize the gene or genes responsible for gray platelet syndrome gps. Ag 0 the gray platelet syndrome gps is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alphagranules and of the proteins contained in alphagranules. As a rare disease bernardsoulier syndrome in differential. In response to an injury that causes bleeding, the proteins. The boy had petechiae and ecchymoses as a newborn, and a bruising tendency throughout childhood. They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor. If you have problems viewing pdf files, download the latest version of adobe reader for language access assistance, contact the ncats public information officer genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126. 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. When she presented for a second opinion, she met all criteria for itp except that inspection of her peripheral blood smear showed large platelets with a complete lack of granulation, indicating a diagnosis of gray platelet syndrome gps.
Unlike the grey platelet syndrome, the abnormality was only evident when blood had been collected into edta and not when citrate or heparin was used as anticoagulant. Jan 10, 20 a 5yearold girl was treated for 4 years based on a diagnosis of immune thrombocytopenia itp. The platelets from the blood collected with ethylene diamine tetraacetic acid edta stained poorly on the blood smear and appeared agranular under the microscope. Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. Pseudogray platelet syndrome differs from gray platelet syndrome gps, one of the giant platelet syndromes. Platelets are small blood cells that stick on injured blood vessels to form a plug and stop bleeding. Apr 20, 2011 grey platelet syndrome gps is probably a heterogeneous disorder with more than one molecular cause. According to british journal of haematology there are less than 100 reported cases of gray platelet syndrome gps uptil. Add paragraph on how the alpha granule reduction contribute to the symptoms of the condition, and add a picture of the grey platelet. Thrombocytopenia and enlarged platelets are associated with a specific absence of alphagranules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of wrightstained peripheral blood. Gray platelet syndrome peripheral blood film giant and poorly stained platelets arrow heads discussion gray platelet syndrome is a rare entity. Mutations in nbeal2 have been linked to gray platelet syndrome gps, a rare bleeding disorder characterized by macrothrombocytopenia, with platelets lacking.
People with this condition tend to bruise easily and have an increased risk of nosebleeds epistaxis. Inherited or functional platelet disorder bernardsoulier syndrome glanzmann thrombasthenia grey platelet syndrome hermanskypudlak syndrome inherited thrombocytopenia release defect storage pool defect hereditary platelet function disorder bleeding disorder, no laboratory diagnosis blood coagulation disorder with prolonged coagulation time. Platelet, ethylene diamine tetraacetic acid, artifact, pseudogrey platelet syndrome introduction pseudogrey platelet syndrome is a rare ethylene diamine tetraacetic acid edtadependent phenomenon that causes platelets to degranulate in vitro, resulting in grey appearance on the peripheral blood pb film. Giant and poorly stained platelets arrow heads figure 2. The gray platelet syndrome gps is the classic disorder of granule biogenesis, being the object of many studies since the first report by. Platelet, ethylene diamine tetraacetic acid, artifact, pseudo grey platelet syndrome introduction pseudo grey platelet syndrome is a rare ethylene diamine tetraacetic acid edtadependent phenomenon that causes platelets to degranulate in vitro, resulting in grey appearance on the peripheral blood pb film. It appears to play a role in the formation of alphagranules, which are sacs inside platelets that contain growth factors and other proteins that are important for blood clotting and wound healing. Patients with either hereditary or acquired platelet disorders usually have bleeding diathesis, which can potentially be life threatening.
Should any genetic defect affecting granules in platelets be. Oct 03, 2011 gray platelet syndrome gps is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. The gray platelet syndrome is an aspd where there is severe reduction of the number and contents of agranules. Gray platelet syndrome genetics home reference nih. Clinical spectrum of the disease the gray platelet syndrome. Gray platelet syndrome gps, or platelet alphagranule deficiency, is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alphagranules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis. Congenital platelet disorders mike makris sheffield, uk. Gray platelet syndrome an overview sciencedirect topics. Platelet p transmission electron microscopy tem has been an.
Gray platelet syndrome gps is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet. When she presented for a second opinion, she met all criteria for itp except that inspection of her peripheral blood smear showed large platelets with a complete lack of granulation, indicating a diagnosis of gray platelet syndrome gps, confirmed by electron microscopy. The bleeding history in severe platelet function disorders will be clearly abnormal. Grey platelet syndrome definition of grey platelet syndrome. This artifactual anomaly did not occur when samples were collected in vacutainers containing citrate or. Depending on individual symptoms and complications, individuals with gps should be regularly seen by a geneticist and a blood disorder specialist. Gray platelet syndrome gps, or platelet alphagranule deficiency, is a rare congenital. The underlying defect is the inability of platelets to store alphagranule proteins. Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. Grey platelet syndrome autosomal recessive mild to moderate bleeding severe deficiency of granules macrothrombocytopenia myelofibrosis due to nbeal2 mutations. Gray platelet syndrome can be caused by mutations in the nbeal2 gene.
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