• Platelet Disorders Overview of Platelet Disorders at eMedicine Mhawech, Paulette (2000). (wikipedia.org)
  • Overview of Platelet Disorders Platelets are circulating cell fragments that function in the clotting system. (merckmanuals.com)
  • Your platelets will clot (clump together) to plug the hole in the blood vessel and stop the bleeding. (medlineplus.gov)
  • When the platelets in the blood do not clump together, there can be excessive levels of bleeding because the blood is not clotting as it normally would. (vetinfo.com)
  • Platelets are small cells that clump together and help blood clot. (medicalnewstoday.com)
  • When your skin is injured or broken , your platelets clump together and form clots to stop the bleeding . (healthline.com)
  • Thrombocytopenia is the category of disorder that patients fall into when their bone marrow does not make enough platelets, or platelets are destroyed. (stanfordbloodcenter.org)
  • The surest way to ensure we are collecting enough platelets is, of course, to increase the number of people donating. (stanfordbloodcenter.org)
  • This can be very dangerous to your cat as it can cause him to bleed to death because there is not enough platelets in the blood to stop effectively stop the bleeding. (vetinfo.com)
  • When thrombocytopenia is present, it means that if there are any ruptures or tears in the walls of the blood vessels, there will not be enough platelets in the blood to clot or repair the tear. (vetinfo.com)
  • When you don't have enough platelets in your blood supply, your body can't form clots. (healthline.com)
  • The bleeding disorder community includes people living with von Willebrand disease (VWD) , hemophilia , platelet disorders, and other rare bleeding disorders (called rare factor deficiencies). (cdc.gov)
  • Blood disorders, such as hemophilia , are forms of coagulopathy. (medicalnewstoday.com)
  • Hemophilia Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII or IX. (merckmanuals.com)
  • Hemophilia refers to a group of inherited bleeding disorders in which the blood does not clot properly because of a deficiency or dysfunction in one of two clotting factor proteins, factor VIII (8) or factor IX (9). (cdc.gov)
  • Investigators in NCBDDD's Division of Blood Disorders will be building on previous research to develop tools to identify people with hemophilia who are most likely to develop inhibitors. (cdc.gov)
  • Investigators in the Division of Blood Disorders have used this information to develop a genetic inhibitor risk prediction tool (pages 537-538 in the linked document) that is based on information about the genetic variant causing a person's hemophilia, genetic variation in the HLA region of a person's genome, and genetic variation in a person's immune response genes. (cdc.gov)
  • Platelet aggregation studies test the clumping response of platelets to various platelet activators (eg, ADP, collagen, arachidonic acid, thrombin, epinephrine, ristocetin) as continuously recorded by a light transmission aggregometer. (medscape.com)
  • Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. (lu.se)
  • Thrombocytopenia is a common feature of hemorrhagic fevers and vascular permeability disorders ( 8 ), but the decrease in platelet counts in acute LF is not low enough to cause spontaneous hemorrhage. (cdc.gov)
  • They are also often required for chemotherapy patients since chemotherapy treatment tends to reduce platelet counts. (stanfordbloodcenter.org)
  • This makes it difficult to assess platelet dysfunction in healthy or sick dogs that also have low platelet counts. (akcchf.org)
  • This test is commonly performed in people and there has been a much research into interpreting results from human patients with different diseases, including low platelet counts. (akcchf.org)
  • Reference intervals exist for healthy dogs but there is no available data on its use in dogs with decreased platelet counts. (akcchf.org)
  • This study is important because the effect of low platelet counts on the reliability of this platelet function test has not been studied in dogs. (akcchf.org)
  • This project will result in important information to help veterinary clinicians accurately assess platelet function in dogs with low platelet counts, thus ensuring proper treatment of canine patients. (akcchf.org)
  • This study investigates immature platelet counts as a marker for bleeding risk in newborns with thrombocytopenia, compared with platelet counts alone. (nih.gov)
  • Some people have low platelet counts due to genetic factors. (medicalnewstoday.com)
  • Low platelet counts affect close to 10% of pregnant people at the time of birth. (medicalnewstoday.com)
  • 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)
  • The hemostatic system consists of platelets, coagulation factors, and the endothelial cells lining the blood vessels. (medscape.com)
  • For more serious cases, you may need medicines or blood or platelet transfusions . (medlineplus.gov)
  • For this reason, platelet transfusions are commonly required when patients experience massive blood loss, such as in traumatic accidents or in major surgeries like organ transplants. (stanfordbloodcenter.org)
  • Though some of the above cases can be treated with drugs and other methods (particularly if addressing another underlying condition), for thrombocytopenia and platelet dysfunction specifically, platelet transfusions can be a critical part of treatment. (stanfordbloodcenter.org)
  • These transfusions can be one-offs to support patients only when their platelets are at a critical low, or transfusions can be required on a regular basis for an extended period. (stanfordbloodcenter.org)
  • BACKGROUND: Platelet transfusions are used in modern clinical practice to prevent and treat bleeding in people who are thrombocytopenic due to bone marrow failure. (ox.ac.uk)
  • and platelet transfusions compared to alternative treatments. (ox.ac.uk)
  • OBJECTIVES: To determine whether different doses of prophylactic platelet transfusions (platelet transfusions given to prevent bleeding) affect their efficacy and safety in preventing bleeding in people with haematological disorders undergoing myelosuppressive chemotherapy with or without haematopoietic stem cell transplantation (HSCT). (ox.ac.uk)
  • The clinical features of functional platelet disorders vary. (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)
  • Clinical Cytometry for Platelets and Platelet Disorders. (umassmed.edu)
  • The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. (lu.se)
  • Neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease (AD) suffer from the lack of risk-predictive circulating biomarkers, and clinical diagnosis occurs only when symptoms are evident. (lum.it)
  • Patients with platelet-mediated disorders often present clinical manifestations of bruising and bleeding. (bvsalud.org)
  • The MultiplateTM platelet analyzer measures platelet function. (akcchf.org)
  • 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)
  • A rare genetic constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia abnormal platelet function and a propensity to develop hematological malignancies mainly of myeloid origin. (globalgenes.org)
  • The board-certified, fellowship-trained hematology specialists at Norton Healthcare provide comprehensive care for patients with platelet disorders, including thrombocytopenia. (nortonhealthcare.com)
  • Treatment for platelet disorders has improved over the last several years, and our patients have access to the latest approved treatments. (nortonhealthcare.com)
  • Some patients may require a more extensive workup to exclude other bleeding disorders as well. (arupconsult.com)
  • In Sierra Leone during 2015-2018, we assessed LF patients' day-of-admission plasma samples for levels of proteins necessary for coagulation, fibrinolysis, and platelet function. (cdc.gov)
  • The objective of this guideline is to provide healthcare professionals with clear guidance on platelet function testing in patients with suspected bleeding disorders. (birmingham.ac.uk)
  • The antigenic target in most patients appears to be the platelet GP IIb/IIIa complex. (medscape.com)
  • Though anyone being asked to donate platelets has likely heard that platelets benefit cancer patients, platelet disorders are not as commonly talked about or widely understood by the general public. (stanfordbloodcenter.org)
  • Surprisingly, the excess of platelets can actually put patients at increased risk for severe bleeding. (stanfordbloodcenter.org)
  • To support patients in need of platelets, Stanford Blood Center has a robust platelet program that collects platelets seven days a week to support patients at local hospitals. (stanfordbloodcenter.org)
  • Thankfully, one donor can give platelets up to 24 times per year, allowing them to impact many patients! (stanfordbloodcenter.org)
  • We encourage any donors who are interested in supporting patients in need of platelets, especially type A and B donors, to learn more about our platelet program at stanfordbloodcenter.org/platelets . (stanfordbloodcenter.org)
  • Many doctors worldwide are administering PRP injections to patients with arthritis and other joint disorders. (klaesthetic.com)
  • The NHLBI leads or sponsors studies for patients who have heart, lung, blood, or sleep related diseases or disorders. (nih.gov)
  • Patients with this disorder have small red-to-violet lesions on the face, lips, oral and nasal mucosa, and tips of the fingers and toes. (merckmanuals.com)
  • We have measured the effect of lithium on [Ca ++ ] i dynamics in platelets from bipolar patients stabilized with lithium treatment, and from healthy controls. (elsevierpure.com)
  • Swedish is well known for offering options - and hope - to patients seeking the most advanced procedures and therapies to treat benign blood disorders. (swedish.org)
  • viscosity, reduced red cell deformability, The main objectives of this study were abnormal red cell adhesive properties, en- to assess platelet aggregation patterns and dothelial intimal proliferation, bone marrow levels of PC, PS and AT III in SCA patients or fat embolism and a chronic hypercoagula- in the steady state and in vaso-occlusive ble state [6]. (who.int)
  • Platelet inhibitory effect of clopidogrel in patients treated with omeprazole, pantoprazole, and famotidine: a prospective, randomized, crossover study. (medscape.com)
  • Gastrointestinal (GI) disorders present in 5% to 50% of patients with primary immunodeficiencies. (medscape.com)
  • Therefore, it is not surprising that GI disorders are common manifestations, and often the initial presenting symptom, in patients with dysfunction in humoral immunity or cell-mediated immunity ( Table 1 ). (medscape.com)
  • Under physiological circumstances, the resistance of the endothelial cell lining to interactions with platelets and coagulation factors prevents thrombosis. (medscape.com)
  • Overview of Hemostasis Hemostasis, the arrest of bleeding from an injured blood vessel, requires the combined activity of Vascular factors Platelets Plasma coagulation factors Regulatory mechanisms counterbalance. (merckmanuals.com)
  • Overview of Vascular Bleeding Disorders Bleeding may result from abnormalities in Platelets Coagulation factors Blood vessels Vascular bleeding disorders result from defects in blood vessels, typically causing cutaneous or mucosal. (merckmanuals.com)
  • Because all coagulation factors are made in the liver (by hepatocytes and hepatic sinusoidal endothelial cells), both the prothrombin time (PT) and partial thromboplastin time (PTT) are prolonged in severe liver disorders. (merckmanuals.com)
  • We set the standard for the use in children of romiplastin (Nplate®) and eltrombopag (Promacta®), which promote platelet production. (weillcornell.org)
  • 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)
  • The platelets arise from the fragmentation of the cytoplasm of megakaryocytes in the bone marrow and circulate in blood as disc-shaped anucleate particles for 7-10 days. (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)
  • 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)
  • This patient handbook contains basic information about the inheritance, diagnosis, symptoms and management of inherited platelet function disorders. (wfh.org)
  • Chelsee's diagnosis was a surprise, but it opened new opportunities that she wouldn't have known about or participated in if it wasn't for her bleeding disorder. (cdc.gov)
  • Once symptoms have occurred or problems have developed during routine dental work, the diagnosis of temporomandibular disorders (TMD), is now confirmed and added to their sometimes long list of joint instability challenges. (caringmedical.com)
  • Bone marrow sampling is not required for diagnosis of GPS, but might be needed to evaluate myelofibrosis occurring in GPS and to exclude other disorders. (orpha.net)
  • Platelet disorders marked by platelet dysfunction describe a case in which the body is producing the proper amount of platelets, but they aren't supporting the body's clotting function as they should. (stanfordbloodcenter.org)
  • Thrombocytopenia is a blood condition in which there is not a sufficient amount of platelets flowing through the blood. (vetinfo.com)
  • 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. (wikipedia.org)
  • Bernard-Soulier Disease (Giant Platelet Syndrome) Symptoms, Causes, Treatment - What is Bernard-Soulier syndrome? (wikipedia.org)
  • Platelet disorders lead to defects in primary hemostasis and produce signs and symptoms different from coagulation factor deficiencies (disorders of secondary hemostasis). (medscape.com)
  • Learn the signs and symptoms and read stories of women and girls living with bleeding disorders. (cdc.gov)
  • Some women who have heavy periods and/or other bleeding symptoms may not be aware that it could be a sign of a bleeding disorder. (cdc.gov)
  • Persistent Versus Transient Depressive Symptoms in Relation to Platelet Hyperactivation: A Longitudinal Analysis of Dementia. (bvsalud.org)
  • Immune thrombocytopenic purpura (ITP) is one of the most common autoimmune disorders. (medscape.com)
  • Certain autoimmune conditions, such as systemic lupus erythematosus (SLE), can increase the rate of platelet destruction. (medicalnewstoday.com)
  • Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and qualitative platelet defects resulting in bleeding tendency. (medscape.com)
  • BSS is one of a group of hereditary platelet disorders characterized by macrothrombocytopenia and a tendency toward bleeding. (medscape.com)
  • Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. (wikipedia.org)
  • Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. (medscape.com)
  • Platelets not only help the blood to clot in cases of injury, but they also repair any damage or tearing of blood vessels throughout the body. (vetinfo.com)
  • Platelets are meant to clot the blood by clumping together when repairing internal blood vessels or at the site of a wound. (vetinfo.com)
  • Bleeding disorders are conditions in which the blood does not clot normally because certain proteins in the blood are missing or do not work properly. (cdc.gov)
  • These medications impair blood clot formation but can also decrease platelet levels . (medicalnewstoday.com)
  • The initial hemostatic plug, composed primarily of platelets, is stabilized further by a fibrin mesh generated in secondary hemostasis. (medscape.com)
  • The Special Coagulation Laboratory provides highly specialized diagnostic services for the investigation of thrombosis and hemostasis disorders. (hamiltonhealthsciences.ca)
  • Platelets contain two unique types of granules: alpha granules and dense granules. (medscape.com)
  • The alpha granules contain hemostatic proteins such as fibrinogen, vWf, and growth factors (eg, platelet-derived growth factor and transforming growth factors). (medscape.com)
  • Absence or marked reduction of alpha-granules in platelets underlie the disorder. (orpha.net)
  • In ITP, however, your immune system attacks and destroys your body's platelets by mistake. (nih.gov)
  • According to Platelet Disorder Support Association, one in 16 adults is affected each year by immune thrombocytopenia (ITP), a type of platelet disorder that typically occurs when a person's immune system mistakenly attacks and destroys its own platelets. (stanfordbloodcenter.org)
  • The body's reaction to vessel wall injury is rapid adhesion of platelets to the subendothelium. (medscape.com)
  • Her doctor called to let her know that her platelets (blood cells that help form clots to stop bleeding) were extremely low and that she needed to go to the emergency department right away. (cdc.gov)
  • For example, in von Willebrand Disease, your platelets cannot stick together or cannot attach to blood vessel walls. (medlineplus.gov)
  • Platelets play a primary role in this process, interacting with subendothelium-bound von Willebrand factor (vWf) via the membrane glycoprotein (GP) Ib complex. (medscape.com)
  • Platelet dysfunction can be developed independently or inherited, such as in Von Willebrand disease. (stanfordbloodcenter.org)
  • This bleeding disorder occurs in people who do not have a blood protein called von Willebrand factor. (medicalnewstoday.com)
  • 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)
  • Platelets are tiny blood cells that are made in the bone marrow. (nih.gov)
  • Platelets are a type of blood cell created in bone marrow that support blood clotting. (stanfordbloodcenter.org)
  • The two main types of disorders associated with an excess of platelets are essential thrombocythemia and reactive thrombocytosis, both of which are caused by overstimulation of bone marrow, where platelets are produced. (stanfordbloodcenter.org)
  • Blood disorders sometimes stem from problems with the bone marrow , where the body makes most of its blood cells. (medicalnewstoday.com)
  • The body creates platelets in bone marrow and stores an amount of them in the spleen. (medicalnewstoday.com)
  • Bone marrow disorders, such as leukemia and lymphoma , can also affect how many platelets the body can produce. (medicalnewstoday.com)
  • Your bone marrow is the spongy tissue inside the bone where all the components of blood, including platelets, are produced. (healthline.com)
  • Thrombopoietin helps control the number of circulating platelets by stimulating the bone marrow to produce megakaryocytes. (merckmanuals.com)
  • Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)
  • This disorder is characterized by reduction of all cellular elements in the peripheral blood and in bone marrow, leading to fibrosis, an irreversible replacement of bone marrow. (cdc.gov)
  • These abnormalities may indicate sickle cell disease, thalassemia , or other disorders. (medicalnewstoday.com)
  • The Pediatric Platelet Disorders Program at Weill Cornell Medicine was established four decades ago and is one of the first programs dedicated to children with platelet disorders such as immune thrombocytopenic purpura (ITP), as well as inherited disorders or platelet production or function. (weillcornell.org)
  • How platelets work: platelet function and dysfunction. (umassmed.edu)
  • Neonatal platelet function. (umassmed.edu)
  • The impaired homeostasis and platelet dysfunction implicate alterations in the protein C pathway, which might contribute to the loss of endothelial barrier function in fatal infections. (cdc.gov)
  • MEDLINE was systematically searched for publications in English up to the Summer of 2010 using key words platelet, platelet function testing and platelet aggregometry. (birmingham.ac.uk)
  • What are Inherited Platelet Function Disorders? (wfh.org)
  • Platelets are small blood cells that function to stop excessive bleeding by forming blood clots when injury occurs. (akcchf.org)
  • Tests that measure platelet function can be affected when the number of platelets is also low. (akcchf.org)
  • Most of the pharmacological evidence to date generally supports the hypothesis that disturbances in serotonin function occur in eating disorders. (springer.com)
  • Serotonergic function is subject to seasonal alterations and may also be implicated in changes of mood and eating behaviour which accompany the seasonal affective disorder. (springer.com)
  • Benign blood disorders, or benign hematologic disorders, are non-cancerous conditions in which blood cells do not function normally. (swedish.org)
  • With some aggregometers, the secretion of platelet granules, another indicator of platelet function, may also be evaluated simultaneously by measuring the release of ATP by the aggregating platelets. (medscape.com)
  • Conditions associated with decreased platelet aggregation include suspected hereditary and acquired disorders of platelet function. (medscape.com)
  • Recovery time of platelet function after aspirin withdrawal. (medscape.com)
  • 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)
  • Other disorders in the category of macrothrombocytopenia are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
  • Platelet secretion defects can provide greater diagnostic sensitivity than platelet aggregation testing alone. (medscape.com)
  • Primary immunodeficiencies are a group of more than 150 disorders, often inherited, that are caused by intrinsic defects in the immune system. (medscape.com)
  • It is the second most common inherited platelet defect. (medscape.com)
  • The underlying biochemical defect in BSS is the absence or decreased expression of the GPIb/IX/V complex on the surface of the platelets. (medscape.com)
  • Platelet activation allows binding of these proteins, which bridges adjacent platelets. (medscape.com)
  • However, N-glycosylation of platelet proteins has been poorly investigated in CDG. (nih.gov)
  • While essential thrombocythemia can be diagnosed without association to any other disorder, reactive thrombocytosis usually forms as a result of other disorders, infections or trauma, such as rheumatoid arthritis or cancers like leukemia. (stanfordbloodcenter.org)
  • Fetal and neonatal alloimmune thrombocytopenia is a rare disorder that occurs when maternal antibodies are produced against a paternal antigen on fetal platelets. (msdvetmanual.com)
  • Although this is not a particularly common disorder in cats, it usually occurs in the aftermath of some other condition. (vetinfo.com)
  • Thin blood occurs when a person has a low number of platelets. (medicalnewstoday.com)
  • Along with other clotting factors and platelets, both factor VIII and factor IX are necessary to help the body stop bleeding when an injury occurs. (cdc.gov)
  • Hereditary hemorrhagic telangiectasia (also called Osler-Weber-Rendu syndrome) is a hereditary disorder of vascular malformation. (merckmanuals.com)
  • The primary outcome was cardiometabolic disorders, including cardiovascular disease (coronary heart disease and stroke), diabetes, and metabolic syndrome. (bmj.com)
  • You also may have a blood test to check for the antibodies that attack platelets. (nih.gov)
  • Platelets with antibodies on their surface are trapped in the spleen, where they are efficiently removed by splenic macrophages. (medscape.com)
  • Immune thrombocytopenia (ITP) is a type of platelet disorder . (nih.gov)
  • Gastrointestinal disorders such as chronic or acute diarrhea, malabsorption, abdominal pain, and inflammatory bowel diseases can indicate immune deficiency. (medscape.com)
  • The diversity of disorders involving the GI tract speaks to the differing forms of immune regulation along the length of the intestine, and the varying nature of the challenge (ie, food antigens in the small bowel and commensal flora in the colon). (medscape.com)
  • PRP or platelet rich plasma injections for knee are very popular these days. (klaesthetic.com)
  • The laboratory has expertise in specialized analysis of the hemoglobin variants, thalassemias and hemolytic anemias as well as providing molecular testing for several malignant disorders including leukemia, lymphoma and the myeloproliferative disorders. (hamiltonhealthsciences.ca)
  • Norton Healthcare hematology services provide comprehensive care for benign blood disorders. (nortonhealthcare.com)
  • For this reason, hematology -the study and treatment of blood disorders - is a subspecialty of internal medicine. (medicalnewstoday.com)
  • We take a team approach to your hematology treatment because we know this offers the best success in managing and curing blood disorders. (swedish.org)
  • Here, we tested genome-wide coheritability based on common genetic variants between platelet parameters and PD/AD risk, through Linkage Disequilibrium Score Regression. (lum.it)
  • Hypoglycosylation is the hallmark of a group of rare genetic diseases called congenital disorders of glycosylation (CDG). (nih.gov)
  • What is the general diagnostic testing approach to a patient with a platelet-type bleeding pattern? (arupconsult.com)
  • We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. (lu.se)
  • This review highlights the GI manifestations of the more common primary immunodeficiency disorders, focusing on the recognition of these diseases, appropriate diagnostic testing, and therapy. (medscape.com)
  • In this review, we highlight normal and deficient N-glycosylation of platelet-derived molecules and discuss the involvement of platelets in the congenital disorders of N-glycosylation. (nih.gov)
  • Cyclic hematopoiesis is an autosomal recessive disorder characterized by 12-day cycles of cytopenia. (msdvetmanual.com)
  • 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 disorder was recognized to be familial and inherited in an autosomal recessive manner. (medscape.com)