The platelets from the blood collected with ethylene diamine tetraacetic acid edta stained poorly on the blood smear and appeared agranular under the microscope. The platelets are large and have a grey appearance on light microscopy. 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. Thrombocytopenia and enlarged platelets are associated with a specific absence of alphagranules. Thrombocytopenia and enlarged platelets are associated with a. 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. 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. The platelet count was mildly decreased compared to normal, but increased after splenectomy at age 9 years. 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. Instead, treatment aims to reduce symptoms and prevent complications. Gray platelet syndrome gps, or platelet alphagranule deficiency, is a rare congenital. This study will identify and characterize the gene or genes responsible for gray platelet syndrome gps.
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. Gray platelet syndrome blood american society of hematology. The role of blood film morphology in thrombocytopenia. As a rare disease bernardsoulier syndrome in differential. 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. Congenital platelet disorders mike makris sheffield, uk. Pdf on jan 10, 20, alan d michelson and others published gray platelet syndrome find, read and cite all the research you need on. Here we show that nbeal2 knockout mice display the characteristics of human gps, with defective. Genetic analysis of gray platelet syndrome full text view. The gray platelet syndrome gps is the classic disorder of granule biogenesis, being the object of many studies since the first report by. Gray platelet syndrome can be caused by mutations in the nbeal2 gene.
Gray platelet syndrome an overview sciencedirect topics. The gray platelet syndrome gps is a rare inherited disorder of the megakaryocyte mk lineage. They may also experience abnormally heavy or extended bleeding following surgery. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of wrightstained peripheral blood. 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. Dec 11, 2011 two cases that were identified during routine blood examination, presented an artifact the pseudo grey platelet syndrome.
Mutations in nbeal2 have been linked to gray platelet syndrome gps, a rare bleeding disorder characterized by macrothrombocytopenia, with platelets lacking. Add paragraph on how the alpha granule reduction contribute to the symptoms of the condition, and add a picture of the grey platelet. 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. Platelets are small blood cells that stick on injured blood vessels to form a plug and stop bleeding.
According to british journal of haematology there are less than 100 reported cases of gray platelet syndrome gps uptil. Should any genetic defect affecting granules in platelets be. 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. Grey platelet syndrome autosomal recessive mild to moderate bleeding severe deficiency of granules macrothrombocytopenia myelofibrosis due to nbeal2 mutations.
The boy had petechiae and ecchymoses as a newborn, and a bruising tendency throughout childhood. Gray platelet syndrome gps is an inherited bleeding disorder characterized by macrothrombocytopenia and absence of platelet. Platelet p transmission electron microscopy tem has been an. 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. The underlying defect is the inability of platelets to store alphagranule proteins. Two cases that were identified during routine blood examination, presented an artifact the pseudogrey platelet syndrome. Pseudo grey platelet syndrome grey platelets due to. People with this condition tend to bruise easily and have an increased risk of nosebleeds epistaxis. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. 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. Grey platelet syndrome definition of grey platelet syndrome. Grey platelet syndrome definition of grey platelet. 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.
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. 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. Patients should be assessed for disorders that may cause acquired platelet dysfunction or vasculitis. 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.
This artifactual anomaly did not occur when samples were collected in. Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. A drug history should be taken, including medicines bought over the counter. Depending on individual symptoms and complications, individuals with gps should be regularly seen by a geneticist and a blood disorder specialist. 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. 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.
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. Gray platelet syndrome peripheral blood film giant and poorly stained platelets arrow heads discussion gray platelet syndrome is a rare entity. They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor. The gray platelet syndrome is an aspd where there is severe reduction of the number and contents of agranules. Jan 10, 20 a 5yearold girl was treated for 4 years based on a diagnosis of immune thrombocytopenia itp. Apr 20, 2011 grey platelet syndrome gps is probably a heterogeneous disorder with more than one molecular cause. Gps is associated with a bleeding tendency, myelofibrosis, and splenomegaly.
Grey platelet syndrome misdiagnosed as itp mayo clinic. The bleeding history in severe platelet function disorders will be clearly abnormal. 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. 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. Gray platelet syndrome gps, is a rare autosomal recessive bleeding disorder first reported in 1970 caused by mutations in nbeal2 1416. In response to an injury that causes bleeding, the proteins. It is one of the macrothrombocytopenias, which are inherited thrombocytopenias with increased platelet size. Most common cause of platelet not being accurately counted by automated analyser is the presence of giant platelet and platelet satellitism. Patients with either hereditary or acquired platelet disorders usually have bleeding diathesis, which can potentially be life threatening. Gray platelet syndrome, blood, volume 121, issue 2, 10 january 20, pages 250. A 5yearold girl was treated for 4 years based on a diagnosis of immune thrombocytopenia itp. 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 gps is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis.
Gray platelet syndrome gps is the result of homozygous mutations in nbeal2, a regulator of membrane dynamics and vesicle trafficking, affecting. Clinical spectrum of the disease the gray platelet syndrome. A 30yearold turkish woman was admitted to the department of heamatology for evaluation of thrombocytopenia. Gray platelet syndrome bain 2011 american journal of. The consultant hematologist is often asked to evaluate patients with a bleeding disorder with clinical characteristics suggesting the presence of a qualitative andor quantitative. 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. Pseudogray platelet syndrome differs from gray platelet syndrome gps, one of the giant platelet syndromes.
Pdf gray platelet syndrome gps is an autosomal recessive disorder characterized by thrombocytopenia and defective platelets that appear. Grey platelet syndrome gps is a rare, congenital disorder which causes a bleeding disorder. 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. This artifactual anomaly did not occur when samples were collected in vacutainers containing citrate or.
Clinical spectrum of the disease nurden, alan t nurden, paquita 20070101 00. Thrombocytopenia and enlarged platelets are associated with a specific absence of. 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. Little is known about the protein produced from this gene. Gray platelet syndrome american society of hematology. Grey platelet syndrome gps is probably a heterogeneous disorder with more than one molecular cause.
Sep 30, 2003 this study will identify and characterize the gene or genes responsible for gray platelet syndrome gps. Gps is characterized by thrombocytopenia, abnormally large agranular platelets in peripheral blood smears, and almost total absence of platelet alphagranules and their constituents. 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. A reliable laboratory diagnosis of a platelet disorder can significantly impact patients and, potentially, their family members clinical management and outcome. 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. The detection of markedly hypogranular platelets including large platelets led to the diagnosis of the gray platelet syndrome, a condition in which. Gray platelet syndrome gps is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. Gps patients exhibit much heterogeneity both in bleeding severity and in their response to platelet function testing. Giant and poorly stained platelets arrow heads figure 2.
Gray platelet syndrome genetics home reference nih. About 60 cases from various populations around the world have been described in the literature to date. The abnormal alphagranules appear grey on blood films stained by the maygrunwaldgiesma stain hence, the syndromes name. An autosomal dominant mim 9090 condition in which the platelets lack alpha and dense granules and by extension, certain platelet proteinse.
304 1114 1537 1418 940 60 381 463 1555 541 1166 1144 137 866 521 819 308 814 1189 477 1236 1549 1497 123 490 495 128 1116 225 1179 544 1243 127 481 444 614 690 52 108 1248 801 1413 1307 1386 135 951