GT manifests in periods of infancy or childhood. The clinical picture includes abnormal bleeding that is usually an exaggerated response to an injury [9]. Additionally, affected children experience epistaxis, which can be severe. Also, patients commonly have gingival bleeding, especially if their dental hygiene is poor [9]. Moreover, women frequently suffer from abnormal uterine bleeding that may warrant blood transfusions [9]. Very importantly, events such as childbirth, dental procedures, and surgery increase the risk for hemorrhagic complications. Further features such as gastrointestinal hemorrhage, hematuria, and joint bleeding may occur although they are rare.

Notable findings include purpura [5] [9] and ecchymoses.

• Swelling

  Intraoral examination revealed a bony swelling on the buccal side of carious 54 and 55 [Figure 3]. A smaller swelling was appreciated on the palate as well. [jisppd.com]

  Some signs of a blood clot may include pain, swelling, warmth, redness, or a lump in your legs or arms, chest pain, shortness of breath, or sudden severe headache and/or loss of consciousness or function Your healthcare provider should monitor you for [novosevenrt.com]

  We have experienced a case of thrombasthenia in a 6-year-old female whose chief complaints were easy bruising, frequent epistaxis, arthralgia and swelling of the right ankle joint. [e-cep.org]

  If you have a blood clot in your arm, symptoms in the affected arm may include: swelling cramping tenderness red or blue skin discoloration skin that’s warm to the touch weakness, though this may be rare If you believe you may have a blood clot in your [healthline.com]

  Gingivostomatitis is an infection of the mouth and gums that leads to swelling and sores. It may be due to a virus or bacteria. Gingivostomatitis is common among children. [medlineplus.gov]

• Asymptomatic

  GT is an autosomal recessive disorder with asymptomatic heterozygous carriers. [clinicaladvisor.com]

  Our findings suggest that the type 2N R854Q mutation, which is normally asymptomatic at the heterozygous level, may be expressed in the presence of a combined impairment of primary haemostasis. [ncbi.nlm.nih.gov]

  […] the reason for his sibling to be asymptomatic as in our case. [jdrntruhs.org]

  May be asymptomatic until trauma or surgical procedures make condition evident. Bibliography W. E. Glanzmann: Hereditäre hämorrhägische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen. [whonamedit.com]

• Ecchymosis

  Patients typically present in early childhood with moderate to severe mucocutaneous bleeding, including menorrhagia, epistaxis, gingival bleeding, GI hemorrhage, and ecchymosis. Epistaxis can be severe, leading to iron deficiency anemia. [clinicaladvisor.com]

  Upon physical exam in the clinic, mild effusion of the right knee was noted with no ecchymosis, and laxity tests and meniscal exams were negative. Range of motion was 2 degrees of extension and 110 degrees of flexion. [opnews.com]

  The sites of bleeding in GT are clearly defined: Mucocutaneous bleed, i.e., bruising, purpura, ecchymosis, gum bleeding, epistaxis, gastrointestinal bleed and menorrhagia, are commonly seen. [jmgims.co.in]

  Multiple case reports have demonstrated the efficacy of rituximab in patients with treatment-resistant GT and bleeding symptoms or ecchymosis [38]. [intechopen.com]

• Pallor

  Right [Figure 3] and left [Figure 4] buccal mucosa and soft palate showed generalized pallor. Dental caries with pulpal involvement was seen in 54. Numbers 54 and 83 showed grade II mobility. [jiaomr.in]

  On examination, she had pallor and gum bleeding. Vital signs were stable. Cardiovascular, respiratory, and other system examination were unremarkable. [annalsafrmed.org]

  On examination, he had pallor, bilateral pedal edema, and icterus. Jugular venous pressure was raised with prominent v waves. Pulse rate was 110 with sinus rhythm, blood pressure was 106/80 mmHg. [annals.in]

• Prolonged Bleeding

  Although hemarthrosis of GT is rare, this disease should be considered in a patient with bleeding tendency and prolonged bleeding time. [ncbi.nlm.nih.gov]

  These drugs can prolong bleeding times by preventing platelets from clumping. [ufhealth.org]

  bleeding time and diminished clot retraction. [semanticscholar.org]

  […] thrombasthenia [throm″bas-the´ne-ah] Glanzmann thrombasthenia a hereditary platelet abnormality characterized by defective clot retraction, prolonged bleeding time, and related symptoms such as epistaxis and inappropriate bleeding. [medical-dictionary.thefreedictionary.com]

  Symptoms may include any of the following: Heavy bleeding during and after surgery Bleeding gums Bruising easily Heavy menstrual bleeding Nosebleeds that do not stop easily Prolonged bleeding with minor injuries There is no specific treatment for this [medlineplus.gov]

• Easy Bruising

  Till the first visit to our hospital, he had not been diagnosed with GT despite a history of bleeding tendency, notably purpura in areas of easy bruising and prolonged bleeding time after abrasions and insect stings. [ncbi.nlm.nih.gov]

  People with Glanzmann thrombasthenia may experience: Easy bruising Nose bleeds Bleeding from gums Heavy or prolonged menstrual bleeding (menorrhagia) or bleeding after childbirth Abnormal bleeding after surgery, circumcision, or dental work Rarely, vomiting [wfh.org]

  Common symptoms: • Bleeding from the nose or gums (sometimes after losing baby teeth, during teething or even after vigorous brushing) • Easy bruising • Excessive bleeding after childbirth • Excessive bleeding after surgery or injury • Prolonged bleeding [haemophilia.ie]

  Easy bruising is often noticed early and the diagnosis is usually made by the age of five years. The commonest problems are easy bruising, nose bleeds, heavy periods and gum bleeding. [contact.org.uk]

• Bleeding Gums

  Symptoms Symptoms may include any of the following: Heavy bleeding during and after surgery Bleeding gums Bruising easily Heavy menstrual bleeding Nosebleeds that do not stop easily Prolonged bleeding with minor injuries Exams and Tests The following [ufhealth.org]

  Symptoms may include any of the following: Heavy bleeding during and after surgery Bleeding gums Bruising easily Heavy menstrual bleeding Nosebleeds that do not stop easily Prolonged bleeding with minor injuries There is no specific treatment for this [medlineplus.gov]

  The disease often manifests itself in young dogs with bleeding gums and/or nosebleeds. GT has been recognized in several breeds, in particular Otter Hounds and Great Pyrenees. GT is an inherited autosomal recessive disorder. [vetgen.com]

• Contusion

  A plain CT brain scan revealed the right frontal, temporal, parietal decompressive craniotomy, and the right frontal contusions slowly resolved during the hospital stay. [emjreviews.com]

  Topics: caregivers, contraceptives, oral, hormonal, glanzmann's thrombasthenia, cost of illness, hemorrhage, contusions, recombinant coagulation factor viia, antibodies, blood transfusion, antifibrinolytic agents Author notes * Asterisk with author names [ashpublications.org]

• Purpura

  Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so. Synonyms or keywords: Glanzmann Thrombasthenia. Glanzmann's disease. Glanzmann-Naegeli syndrome. [viapath.co.uk]

  QID: 101327 Type & Select Correct Answer Type in at least one full word to see suggestions list Thrombotic thrombocytopenic purpura Idiopathic thrombocytopenic purpura Glanzmann’s thrombasthenia M 2 E Select Answer to see Preferred Response Evidence [step1.medbullets.com]

  Review Topic QID: 101327 2 Thrombotic thrombocytopenic purpura 4 Idiopathic thrombocytopenic purpura 5 Glanzmann’s thrombasthenia M1 Select Answer to see Preferred Response PREFERRED RESPONSE 5 Sorry, this question is for PEAK Premium Subscribers only [medbullets.com]

  ( D47.3 ) purpura fulminans ( D65 ) thrombotic thrombocytopenic purpura ( M31.1 ) Waldenström hypergammaglobulinemic purpura ( D89.0 ) Purpura and other hemorrhagic conditions Approximate Synonyms Platelet disorder Platelet disorder, qualitative Platelet [icd10data.com]

  Rituximab before splenectomy in adults with primary idiopathic thrombocytopenic purpura: a meta-analysis. Br J Haematol. 2012 Aug. 158(3):386-98. [Medline]. Jackson S, Beck PL, Pineo GF, Poon MC. [medscape.com]

• Petechiae

  History The clinical history of Glanzmann thrombasthenia may include the following: Excessive bleeding after dental extraction (this may often be the first sign of the disease) Petechiae and ecchymoses (although spontaneous petechiae are uncommon) Gingival [emedicine.medscape.com]

  On physical exam, his extremities are spotted with petechiae and purpura. Suspicious of a congenital bleeding disorder, the pediatrician orders labs. A complete blood count comes back with normal platelet count but increased bleeding time. [step1.medbullets.com]

  Symptoms include purpura, petechiae, bruising, gingival bleeding, epistaxis, and menorrhagia. [ncbi.nlm.nih.gov]

• Erythema

  The presence of target lesions on the skin is highly indicative of erythema multiforme. [medcraveonline.com]

   Necrotizing Ulcerative Gingivitis  Erythema multiforme  Stevens-Johnson Syndrome  Apthous Stomatitis (canker sores)  Herpangina  Desquamative gingivitis  Early pemphigus  Aphthous ulcers 8.  1. [slideshare.net]

  Stevens–Johnson syndrome: Stevens–Johnson syndrome is characterized by early symptoms of malaise and fever, and shortly after that erythema, purpura and plaques on the skin, which often progresses to epidermal necrosis and sloughing in extreme cases.[ [wikizero.com]

• Epistaxis

  Patients typically present in early childhood with moderate to severe mucocutaneous bleeding, including menorrhagia, epistaxis, gingival bleeding, GI hemorrhage, and ecchymosis. Epistaxis can be severe, leading to iron deficiency anemia. [clinicaladvisor.com]

  Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so. Synonyms or keywords: Glanzmann Thrombasthenia. Glanzmann's disease. Glanzmann-Naegeli syndrome. [viapath.co.uk]

  Management of epistaxis Epistaxis could also cure by local thrombin application and anti fibrinolytic drugs, nasal packages etc. according to studies epistaxis more efficiently cure by the use of prothrombotic agents. [rroij.com]

  Key words: Epistaxis; Glanzmann's Thrombasthenia; Recurrent Epistaxis [scopemed.org]

  This was her third episode of spontaneous non-traumatic epistaxis that needed packing. Additionally, she had a history of bleeding after minimal trauma and gingivorrhagia. [arquivosdeorl.org.br]

• Irritability

  If they do have symptoms, they may include: fever irritability painful mouth ulcers and lip blisters poor appetite or reluctance to drink. The ulcers/blisters usually take 10 to 14 days to go away. The blisters never leave scars. [rch.org.au]

  Avoid sodas and citrus drinks like orange juice that might irritate the sores. Give your child cold foods like ice cream and ice pops. Offer soft, bland foods like mashed potatoes, pudding, applesauce, and macaroni and cheese. [hhma.org]

  Other common causes include: Injury or irritation to the mouth or throat Fungal or bacterial infections Irritating foods or chemicals, such as citrus fruit, toothpaste, or mouthwash Lack of certain vitamins, including vitamins B and C A weakened immune [mountnittany.org]

  However, it is important to note that many different factors can cause the irritation and sores in the mouth that are characteristic of gingivostomatitis. The general medical term for inflammation of the mouth and lips is stomatitis. [medicalnewstoday.com]

• Seizure

  He had undergone one episode of seizure at the time of the accident. There were no other comorbidities, he was a non-smoker, and had an occasional alcohol use disorder. He had no immediate family support system. [emjreviews.com]

  This can cause behavioural changes, drowsiness and seizures. Children with a weakened immune system because of illness or medication have an increased risk of getting herpes simplex mouth infection and encephalitis. [raisingchildren.net.au]

  Medscape Education Clinical Briefs October 01, 2015 Approximately one-third of pregnant women receiving neurologic consultation for headache have secondary causes, particularly those without headache history and with seizures, hypertension, or fever. [medscape.org]

  Call 911 Call 911 if any of these occur: Trouble breathing Inability to swallow Extremes drowsiness or trouble waking up Fainting or loss of consciousness Rapid heart rate Seizure Stiff neck When to seek medical advice For a usually healthy child, call [mountnittany.org]

  Case Report A 16-year-old female, born out of non-consanguineous marriage presented with a history of fall from stairs in morning hours, which was not associated with the loss of consciousness, vomiting or seizures. [jnaccjournal.org]

• Hematuria

  Purpura, epistaxis, gingival bleeding and menorrhagia are common, with gastrointestinal bleeding, hematuria and potentially fatal hemorrhage less so. Synonyms or keywords: Glanzmann Thrombasthenia. Glanzmann's disease. Glanzmann-Naegeli syndrome. [viapath.co.uk]

  We report a six day old newborn presenting with hematuria following suprapubic aspiration, who was diagnosed as Glanzmann thrombasthenia. We believe it to be the youngest case reported in the literature. [ncbi.nlm.nih.gov]

• Vaginal Bleeding

  Three episodes of epistaxis and an episode of vaginal bleeding were managed conservatively. She had received 60 units of blood transfusion over a period of 1 year. [bjo.bmj.com]

  Severe juvenile vaginal bleeding due to Glanzmann's thrombasthenia: Case report and review of the literature. Am J Hematol 1998;57:225-7. 10. [jmgims.co.in]

Patients presenting with abnormal bleeding warrant a thorough assessment consisting of personal and family history, a physical exam, and comprehensive testing.

Laboratory tests

The initial studies include a CBC and coagulation panel. Typical results include normal platelet count, iron deficiency anemia, normal activated partial thromboplastin time (aPTT), and normal prothrombin time (PT). However, bleeding time (BT) is prolonged [10].

One diagnostic tool analyzes platelet function with the light transmission aggregometry (LTA), which is very specific for GT. However, there is a disadvantage associated with this method since children and thrombocytopenic individuals may not be able to produce platelet-rich samples [11].

Another important diagnostic technique for GT patients, the platelet function analyzer (PFA), demonstrates the failure of platelets to plug the filters during the procedure [12]. Finally, flow cytometry and monoclonal antibodies will determine and confirm the deficiency of the GPIIb/IIIa unit.

Other

Genetic testing can reveal the DNA mutations that cause the disease.

• Bleeding Time Prolonged

  GT could not diagnose by platelet count because platelet is normal in a patient with GTo, it could diagnose by prolong bleeding time, prolong PFA results, flow cytometry technique and by LTA. [rroij.com]

• Platelet Aggregation Abnormal

  Desmopressin has been used with unequivocal success in patients with defective platelet adhesion, however, its role in platelet aggregation abnormalities is not established. [jnaccjournal.org]

While there is no specific therapy or cure for GT, management of this disease is centered on supportive care, which is paramount for the prevention of complications and adverse outcomes.

Local treatment

In cases with a minor and local bleeding, the application of fibrin sealants can control the hemorrhage. With epistaxis and gingival bleeding, patients usually benefit from homeostatic measures such as nasal packing or the use of gel foam that contains thrombin.

Blood transfusion

Blood transfusions are commonly required [13] [14]. Special consideration should be applied in surgical patients with GT. Specifically, perioperative management should include prophylactic transfusions or readily available blood preparations.

Special consideration should be given to delivering mothers since childbirth poses a significant risk for hemorrhage. Therefore, platelet transfusions are given before delivery and possibly even a week postpartum [13].

Individuals who receive numerous transfusions may produce antibodies [9]. Therefore, platelet products should be screened and matched for HLA-compatibility to prevent anti-HLA alloimmunization. Note that high titers of antibodies render the patient refractory to future transfusions.

Novel therapy

Recombinant factor VIIa was approved for treatment of GT in 2014. This medication can be administered in actively bleeding patients and those who do not respond to platelet transfusions. Specifically, it is beneficial in GT individuals with antibodies [15]. It can be given in conjunction with anti-fibrinolytic drugs as recombinant factor VIIa plays a role in stabilizing new clots [16].

Other

Manifestations of GT should be managed accordingly. For example, menorrhagia is treated with additional doses of hormones like progesterone. Also, oral contraceptives should be given for maintenance therapy. Additionally, iron deficiency anemia should be addressed and treated with iron supplements. Finally, routine dental care is important to prevent gingival disease and reduce bleeding.

Patients who receive supportive care have a good prognosis. Adults are generally healthy as bleeding decreases with age. Also, mortality is rare.

This condition was first described in 1918 by a Swiss physician known as Eduard Glanzmann when he discovered that GT occurred secondary to a dysfunction in the clotting process [1]. He also investigates the familial component. Later, it was discovered that mutations in genes on chromosome 17 are responsible for deficiency of GPIIb/IIIa receptor, which binds fibrinogen and von Willebrand factor (vWF).

Glanzmann thrombasthenia is an autosomal recessive disorder with mutations in gene(s) coding for the platelet GPIIb/IIIa (aIIbb3) integrin family receptor. The majority of defects occur in the ITGA2B (codes for αIIb) or ITGB3 (codes for β3) genes. There a myriad of abnormalities that have been identified for this disorder such as frameshifts, insertion, and missense mutations.

There is a very rare acquired form of GT that results from antibodies to the GPIIb/IIIa complex. This infrequent type was observed in a patient with non-Hodgkin lymphoma [2] [3]. Another variant, transient GT, may emerge in patients receiving antithrombotic medications [4].

The prevalence of GT is estimated to be 1 in a population of 1 million [5]. With regards to the patient demographics, some studies have demonstrated a slight preference for females [6]. Furthermore, this disease is more predominant in specific ethnic groups in which consanguinity is prevalent. Specifically, a higher incidence is found in populations such as Palestinians, Jordanian tribes, Iraqi Jews, and certain French Gypsy communities [7].

The GPIIb/IIIa is heterodimeric membrane receptor that is composed of two subunits: αIIb and β3. In the event of an injury, this receptor promotes the adherence of platelets to the endothelium, platelet aggregation, and thrombus formation. This complex is also involved in other cellular mechanisms such as cell migration and cell-to-cell communication.

Injured endothelium secretes fibrinogen and adhesive proteins that attach to platelets and form a plug at the damaged site. Activated platelets prompt conformational changes in the GPIIb/IIIa unit, thereby allowing the receptor to bind fibrinogen [8]. The bound fibrinogen bridges platelets to each other and signals for further aggregation. The overall process generates homeostasis. Hence, a dysfunction in the GPIIb/IIIa receptor leads to prolonged bleeding.

As a hereditary disorder, GT cannot be prevented. However, genetic counseling is available for patients and their family members to provide them with information about the disease, its mode of inheritance, expectations, and other important details. Prenatal testing can be done if the genetic defect in the family is identified.

Education

Additionally, there are precautions for patients and their parents:

• Patients should wear a medical bracelet or possess proper documentation in case of emergencies or trauma
• They should understand when to seek emergency care
• They should be informed thoroughly about the disease

Medications to avoid

Any drug that reduces the function of platelets or affects coagulation is contraindicated in patients with GT. The list of drugs includes aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), warfarin, heparin, clopidogrel, ticlopidine, GP IIb/IIIa inhibitors, tissue plasminogen activator (tPA), streptokinase, urokinase, certain volume expanders, and dipyridamole.

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder characterized by the failure of platelet aggregation. Mutations in genes coding for GPIIb/IIIa integrin family receptor will lead to an abnormality or deficiency of this receptor, which is essential in platelet aggregation. Since platelets are integral to homeostasis, disruption in their function will lead to impairment of the coagulation process.

The clinical picture manifests in infants or young children. The main features include exaggerated bleeding responses, epistaxis, and gingival bleeding. Additionally, women will often experience heavy menstrual bleeding and possibly complications with childbirth. Patients undergoing surgery or teeth extractions may also have difficulty with hemorrhage control.

Infants and children with excessive and/or prolonged bleeding should be evaluated with a personal and family history, a physical exam, and laboratory tests. The latter includes complete blood cell (CBC), coagulation studies, and diagnostic techniques that assess for platelet aggregation function, flow cytometry and monoclonal antibodies. The above tools will reveal findings that are characteristic of GT.

With regards to therapy and management, patients will often receive supportive care with platelet transfusions, especially for those undergoing surgical procedures, childbirth, trauma, etc. Additionally, local fibrin sealants are used for smaller wounds. A new agent, recombinant factor VIIa, can be administered for patients actively bleeding or those who are refractory to transfusions.

Individuals who are appropriately treated will lead healthy lives. Affected children and their parents should be educated thoroughly about GT and establish care with the healthcare provider. Additionally, genetic counseling is available to patients and their family members.

What is Glanzmann thrombasthenia?

Glanzmann thrombasthenia (GT) is an inherited blood clotting disorder. In this rare condition, there is a dysfunction of the platelets. Therefore, blood clotting does not work properly and these patients experience abnormal bleeding. This disease can be life-threatening if not treated appropriately.

What are the causes?

This disease develops from mutations in genes that are responsible for producing glycoprotein IIb/IIIa, which are found on chromosome 17.

GT is inherited in an autosomal recessive pattern. This means that the affected individual has two bad copies of the gene in order to have the disease. In other words, the patient inherits a bad copy from each parent.

What are the signs and symptoms?

This disease presents in infants or early years of childhood. The main features are as follows:

• Nosebleeds with heavy bleeding
• Bleeding gums
• Bruising that occurs easily
• Bleeding that persists for a long time after small injuries
• Excessive bleeding after surgical procedures
• Heavy bleeding during menstrual periods and childbirth

How is it diagnosed?

Patients with abnormal bleeding should be evaluated with a personal and family history, a physical exam, and laboratory tests such as:

• Complete blood count will show normal number of platelets
• Coagulation studies will show prolonged bleeding time
• Platelet aggregation studies will be abnormal
• Flow cytometry and monoclonal antibodies will reveal a deficiency in GPIIb/GPIIIa receptor
• Genetic testing to determine the mutation

How is it treated?

There is no specific treatment for this disease, however, patients may require blood platelet transfusions especially if they undergo:

• Surgery
• Dental procedures
• Childbirth
• Trauma

There is a new medication called NovoSeven RT, a recombinant factor VIIa, which can be beneficial. Also, fibrin sealants can be used for local wounds.

Can it be prevented?

Since this disease is inherited, it cannot be prevented. However, genetic counseling is offered to patients and their family members to provide education regarding what the disease is, how it is inherited, and other important details.

Patients with GT should avoid medications such as:

• Aspirin
• NSAIDs
• Warfarin
• Heparin
• Other medications that interfere with blood clotting

Additionally, there are precautions:

• Patients and parents should learn about the disease
• Patients and parents of young patients should be aware of the condition and when to seek emergency care
• Patients should wear medical emergency bracelets or have proper identification in case of emergency or trauma

What is the prognosis?

The prognosis is usually excellent as adults are usually healthy. Also, the bleeding decreases as the patient gets older.

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